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ResearchIn-Press PreviewGeneticsNeuroscience Open Access | 10.1172/JCI189830

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

Katrine M. Johannesen,1 Khaing Phyu Aung,2 Vivian W.Y. Liao,3 Nathan L. Absalom,3 Han C. Chua,4 Xue N. Gan,2 Miaomiao Mao,2 Chaseley E. McKenzie,2 Hian M. Lee,2 Sebastian Ortiz,5 Rebecca C. Spillmann,6 Vandana Shashi,6 Rodney A. Radtke,7 Ghayda M. Mirzaa,8 P. Anne Weisner,9 Josue Flores Daboub,10 Caroline Hagedorn,10 Pinar Bayrak-Toydemir,11 Desiree DeMille,12 Jian Zhao,11 Nandita Bajaj,13 Yline Capri,14 Boris Keren,15 Miriam Schmidts,16 Ingrid M.B.H. van de Laar,17 Marjon A. van Slegtenhorst,17 Rafal Ploski,18 Marta Bogotko,19 Danielle K. Bourque,20 Ebba Alkhunaizi,21 Lauren Chad,21 Nada Quercia,21 Houda Elloumi,22 Ingrid M. Wentzensen,22 Michael C. Kruer,23 Pritha Bisarad,23 Carolina I. Galaz-Montoya,23 Violeta Rusu,24 Dominique Braun,24 Katie Angione,25 Jessica C. Win,26 Camilo Espinosa-Jovel,27 Pia Zacher,28 Konrad Platzer,29 Samuel F. Berkovic,30 Ingrid E. Scheffer,31 Mary Chebib,3 Guido Rubboli,32 Rikke S. Møller,5 Christopher A. Reid,31 and Philip K. Ahring3

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Johannesen, K. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Aung, K. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Liao, V. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Absalom, N. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Chua, H. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Gan, X. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Mao, M. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by McKenzie, C. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Lee, H. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Ortiz, S. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Spillmann, R. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Shashi, V. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Radtke, R. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Mirzaa, G. in: PubMed | Google Scholar |

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Weisner, P. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Flores Daboub, J. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Hagedorn, C. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Bayrak-Toydemir, P. in: PubMed | Google Scholar |

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by DeMille, D. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Zhao, J. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Bajaj, N. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Capri, Y. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Keren, B. in: PubMed | Google Scholar |

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Schmidts, M. in: PubMed | Google Scholar |

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by van de Laar, I. in: PubMed | Google Scholar |

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by van Slegtenhorst, M. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Ploski, R. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Bogotko, M. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Bourque, D. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Alkhunaizi, E. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Chad, L. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

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1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

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1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

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1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

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1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Bisarad, P. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

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1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Rusu, V. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Braun, D. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Angione, K. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Win, J. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Espinosa-Jovel, C. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

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1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

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1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

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1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

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1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Chebib, M. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

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1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Møller, R. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

Find articles by Reid, C. in: PubMed | Google Scholar

1Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

2The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Australia

3School of Medical Sciences, The University of Sydney, Sydney, Australia

4Sydney Pharmacy School, The University of Sydney, Sydney, Australia

5Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Filadelfia, Denmark

6Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, United States of America

7Department of Neurology, Duke University School of Medicine, Durham, United States of America

8Department of Laboratory Medicine and Pathology, University of Washington, Seattle, United States of America

9Department of Pediatrics, University of Washington, Seattle, United States of America

10Genetics Division, University of Utah School of Medicine, Salt Lake City, United States of America

11Department of Pathology, University of Utah, Salt Lake City, United States of America

12ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, United States of America

13Department of Neuropediatrics, Christian Children’s Hospital Osnabrück, Osnabrück, Germany

14Department of Genetics, University of Paris, Paris, France

15Department of Medical Genetics, Sorbonne Université, Paris, France

16Center for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany

17Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands

18Department of Medical Genetics, Warsaw Medical University, Warsaw, United States of America

19Professor Jan Bogdanowicz MD Children’s Hospital, Warsaw, Poland

20Division of Metabolics and Newborn Screening, University of Ottawa, Ottawa, Canada

21Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Canada

22GeneDx, Gaithersburg, United States of America

23Division of Pediatric Neurology, Phoenix Children’s Hospital,, Phoenix, United States of America

24Department of Human Genetics, University of Bern, Bern, Switzerland

25Department of Child Neurology, Children's Hospital Colorado, Aurora, United States of America

26Department of Neurology, Indiana University School of Medicine in Indianapolis, Indianapolis, United States of America

27Epilepsy Program, Instituto Roosevelt, Bogotá, Colombia

28Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany

29Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany

30Department of Medicine, University of Melbourne, Heidelberg West, Australia

31The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, United Kingdom

32Danish Epilepsy Centre, Danish Epilepsy Centre, Dianalund, Denmark

33Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark

34The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Australia

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Published November 25, 2025 - More info

J Clin Invest. https://doi.org/10.1172/JCI189830.
Copyright © 2025, Johannesen et al. This work is licensed under the Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
Published November 25, 2025 - Version history
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Abstract

Disorders of GABRA3, the only epilepsy-associated GABA-A receptor subunit gene on the X chromosome, have eluded clinical clarity due to ambiguous inheritance patterns and variable phenotypes. The long-standing assumption that all pathogenic variants cause loss-of-function further obscured genotype-phenotype relationships and hindered progress. Here, we curated a cohort of individuals with a GABRA3 variant, integrating deep phenotyping, genotyping, family history, electrophysiology, with a targeted mouse model. Among 43 individuals with 19 GABRA3 variants, functional analyses revealed both gain- and loss-of-function effects, each linked to distinct clinical profiles. Gain-of-function variants were associated with severe, treatment-resistant epilepsy and severe-profound intellectual disability, disproportionately affecting males, who were often non-ambulant and had cortical visual impairment. Loss-of-function variants produced milder phenotypes, with epilepsy rarely observed; affected males showed behavioural issues and language delay, while females were unaffected carriers. Our gain-of-function (Gabra3Q242L/+) mouse model mirrored these sex-specific differences, showing increased seizure susceptibility, early death, and marked cortical hyperexcitability. These insights not only resolve longstanding uncertainties surrounding GABRA3 but also redefine how X-linked disorders are interpreted. They demonstrate that it is the functional impact of a variant, not its mere presence, that determines whether a condition manifests dominantly or recessively. This distinction carries important implications for genetic counselling, precision medicine, and the broader interpretation of X-linked neurodevelopmental disorders.

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graphical abstract
Supplemental material

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