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ResearchIn-Press PreviewGeneticsNeuroscience
Open Access |
10.1172/JCI189830
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
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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 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
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Mirzaa, G.
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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 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
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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 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
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Bayrak-Toydemir, P.
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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 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
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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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Schmidts, M.
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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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van de Laar, I.
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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 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
Find articles by Quercia, 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 Elloumi, 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
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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 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
Find articles by Zacher, 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 Platzer, 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 Berkovic, 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
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Scheffer, I.
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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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Rubboli, G.
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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
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.