Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

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

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

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

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

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

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

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

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

Find articles by Paimboeuf, A. in: PubMed | Google Scholar

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

Find articles by Branco Fonseca, T. in: PubMed | Google Scholar

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

Find articles by Abramova, T. in: PubMed | Google Scholar

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

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

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

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

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

Find articles by Magrinelli, F. in: PubMed | Google Scholar

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

Find articles by Peng, W. in: PubMed | Google Scholar

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

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

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

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

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

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

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

Find articles by Marton, T. in: PubMed | Google Scholar

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

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

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

Find articles by Ortigoza-Escobar, J. in: PubMed | Google Scholar

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

Find articles by Martorell, L. in: PubMed | Google Scholar

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

Find articles by Gómez-Chiari, M. in: PubMed | Google Scholar

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

Find articles by Wentzensen, I. in: PubMed | Google Scholar

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

Find articles by Kamsteeg, E. in: PubMed | Google Scholar

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

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

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

Find articles by Scardamaglia, A. in: PubMed | Google Scholar |

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

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

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

Find articles by Al-Hassnan, Z. in: PubMed | Google Scholar |

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

Find articles by Miller, E. in: PubMed | Google Scholar

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

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

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

Find articles by Matsa, L. in: PubMed | Google Scholar

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

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

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

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

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

Find articles by Al-Thihli, K. in: PubMed | Google Scholar

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

Find articles by Al-Maawali, A. in: PubMed | Google Scholar

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

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

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

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

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

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

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

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

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

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

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

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

¹Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, United States of America

²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

³Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States of America

⁴Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, Canada

⁵Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁶The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Canada

⁷Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom

⁸Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

⁹Department of Medical & Molecular Genetics, King's College Hospital, Synnovis, Faculty of Life Sciences and Medicine, King’s College London, London, United Kingdom

¹⁰Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹¹West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom

¹²Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain

¹³Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁴Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain

¹⁵GeneDx, LLC, Gaithersburg, United States of America

¹⁶Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands

¹⁷Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt

¹⁸CENTOGENE, Rostock, Germany

¹⁹Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia

²⁰Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Canada

²¹Department of Obstetrics and Gynecology, Ontario Fetal Center, Mount Sinai Hospital, University of Toronto, Toronto, Canada

²²Genomic Precision Diagnostic Department, Igenomix FZ LLC, Dubai, United Arab Emirates

²³Department of Genetics, Sultan Qaboos University Hospital, University Medical City, Muscat,, Oman

²⁴Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany

²⁵Neuroradiology Unit, RCCS Institute Giannina Gaslini, Genova, Italy

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