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Salpietro Vincenzo Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto “Giannina Gaslini”, 16147, Genoa, Italy Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy
Dixon Christine L. Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK
Guo Hui Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, 98195, USA Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China
Bello Oscar D. Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK
Vandrovcova Jana Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK
Efthymiou Stephanie Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK
Maroofian Reza Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK
Heimer Gali Pediatric Neurology Unit, Safra Children’s Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel
Burglen Lydie Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique et Embryologie Médicale, APHP, Hôpital Trousseau, 75012, Paris, France
Valence Stephanie Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Service de Neurologie Pédiatrique, APHP, Hôpital Trousseau, 75012, Paris, France
Torti Erin GeneDx, Gaithersburg, MD, 20877, USA
Hacke Moritz Biochemistry Center, Heidelberg University, D-69120, Heidelberg, Germany
Rankin Julia Royal Devon and Exeter NHS Foundation Trust, Exeter, EX1 2ED, UK
Tariq Huma Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK
Colin Estelle Department of Biochemistry and Genetics, University Hospital, 49933, Angers, France MitoLab, UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, 49100, Angers, France
Procaccio Vincent Department of Biochemistry and Genetics, University Hospital, 49933, Angers, France MitoLab, UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, 49100, Angers, France
Striano Pasquale Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto “Giannina Gaslini”, 16147, Genoa, Italy Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy
Mankad Kshitij Great Ormond Street Hospital for Children, London, WC1N 3JH, UK
Lieb Andreas Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK
Chen Sharon Division of Medical Genetics, Northwell Health/Hofstra University SOM, New York, 11020, USA
Pisani Laura Division of Medical Genetics, Northwell Health/Hofstra University SOM, New York, 11020, USA
Bettencourt Conceicao Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, London, WC1N 1PJ, UK
Mannikko Roope Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK
Manole Andreea Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK
Brusco Alfredo Department of Medical Sciences, Medical Genetics Unit, University of Torino, 10126, Torino, Italy
Grosso Enrico Department of Medical Sciences, Medical Genetics Unit, University of Torino, 10126, Torino, Italy
Ferrero Giovanni Battista Department of Public Health and Pediatrics, University of Torino, 10126, Torino, Italy
Armstrong-Moron Judith Unit of Medical and Molecular Genetics, University Hospital Sant Joan de Deu Barcelona, 08950, Barcelona, Spain
Gueden Sophie Unit of Neuropediatrics, University Hospital, Angers Cedex, 49933, France
Bar-Yosef Omer Pediatric Neurology Unit, Safra Children’s Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel
Tzadok Michal Pediatric Neurology Unit, Safra Children’s Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel
Monaghan Kristin G. GeneDx, Gaithersburg, MD, 20877, USA
Santiago-Sim Teresa GeneDx, Gaithersburg, MD, 20877, USA
Person Richard E. GeneDx, Gaithersburg, MD, 20877, USA
Cho Megan T. GeneDx, Gaithersburg, MD, 20877, USA
Willaert Rebecca GeneDx, Gaithersburg, MD, 20877, USA
Yoo Yongjin Department of Biomedical Sciences, Seoul National University, Seoul, 03080, South Korea
Chae Jong-Hee Department of Pediatrics, Seoul National University, Seoul, 03080, South Korea
Quan Yingting Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China
Wu Huidan Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China
Wang Tianyun Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, 98195, USA Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China
Bernier Raphael A. Department of Psychiatry, University of Washington, Seattle, WA, 98195, USA
Xia Kun Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China
Blesson Alyssa Center for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, Maryland, 21211, USA
Jain Mahim Center for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, Maryland, 21211, USA
Motazacker Mohammad M. Department of Clinical Genetics, University of Amsterdam, Meibergdreef 9, 1105, Amsterdam, Netherlands
Jaeger Bregje Department of Pediatric Neurology, Amsterdam UMC, 1105, Amsterdam, Netherlands
Schneider Amy L. Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, 3084, Australia
Boysen Katja Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, 3084, Australia
Muir Alison M. Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA
Myers Candace T. Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, 98195, USA
Gavrilova Ralitza H. Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA
Gunderson Lauren Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA
Schultz-Rogers Laura Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA
Klee Eric W. Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA
Dyment David Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, Canada
Osmond Matthew Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, Canada Department of Human Genetics, McGill University Health Centre, Montréal, QC, H4A 3J1, Canada Genome Québec Innovation Center, Montréal, QC, H3A 0G1, Canada
Parellada Mara Child and Adolescent Psychiatry Department, Hospital General Universitario Gregorio Marañón, School of Medicine, Universidad Complutense, IiSGM, CIBERSAM, 28007, Madrid, Spain
Llorente Cloe Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Maranon, Universidad Complutense, CIBERSAM, 28007, Madrid, Spain
Gonzalez-Penas Javier Hospital Gregorio Maranon, IiSGM, School of Medicine, Calle Dr Esquerdo, 46, 28007, Madrid, Spain
Carracedo Angel Grupo de Medicina Xenómica, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), CIMUS, Universidade de Santiago de Compostela, 15782, Santiago de Compostela, Spain Fundación Pública Galega de Medicina Xenómica- IDIS- Servicio Galego de Saúde (SERGAS), 15706, 15782, Santiago de Compostela, Spain
Van Haeringen Arie Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, Netherlands
Ruivenkamp Claudia Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, Netherlands
Nava Caroline Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, 75013, Paris, France
Heron Delphine Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, 75013, Paris, France
Nardello Rosaria Department of Health Promotion,Mother and Child Care, Internal Medicine and Medical Specialities “G. D’Alessandro”, University of Palermo, 90133, Palermo, Italy
Iacomino Michele Laboratory of Neurogenetics and Neuroscience, IRCCS Istituto “Giannina Gaslini”, 16147, Genova, Italy
Minetti Carlo Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto “Giannina Gaslini”, 16147, Genoa, Italy Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy
Skabar Aldo Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, University of Trieste, 34134, Trieste, Italy
Fabretto Antonella Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, University of Trieste, 34134, Trieste, Italy
Chez Michael Neuroscience Medical Group, 1625 Stockton Boulevard, Suite 104, Sacramento, CA, 95816, USA
Tsai Anne Department of Genetics and Inherited Metabolic diseases, Children’s Hospital Colorado, Aurora, CO, 80045, USA
Fassi Emily Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA
Shinawi Marwan Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA
Constantino John N. William Greenleaf Eliot Division of Child & Adolescent Psychiatry, Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, 63110, USA
De Zorzi Rita Department of Chemical and Pharmaceutical Sciences, University of Trieste, 34134, Trieste, Italy
Fortuna Sara Department of Chemical and Pharmaceutical Sciences, University of Trieste, 34134, Trieste, Italy
Kok Fernando Neurogenetics Unit, Department of Neurology, University of Sao Paulo, Sao Paulo, 01308-000, Brazil Mendelics Genomic Analysis, Sao Paulo, SP, 04013-000, Brazil
Keren Boris Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, 75013, Paris, France
Bonneau Dominique Department of Biochemistry and Genetics, University Hospital, 49933, Angers, France MitoLab, UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, 49100, Angers, France
Choi Murim Department of Biomedical Sciences, Seoul National University, Seoul, 03080, South Korea
Benzeev Bruria Pediatric Neurology Unit, Safra Children’s Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel
Zara Federico Laboratory of Neurogenetics and Neuroscience, IRCCS Istituto “Giannina Gaslini”, 16147, Genova, Italy
Mefford Heather C. Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA
Scheffer Ingrid E. Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, 3084, Australia
Clayton-Smith Jill Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Lancashire, M13 9WL, UK Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, M13 9WL, UK
Macaya Alfons Department of Pediatric Neurology, University Hospital Vall d’Hebron, Universitat Autònoma de Barcelona, 08035, Barcelona, Spain
Rothman James E. Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK Department of Cell Biology, Yale University School of Medicine, New Haven, CT, 06520, USA
Eichler Evan E. Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, 98195, USA Howard Hughes Medical Institute, University of Washington, Seattle, WA, 98195, USA
Kullmann Dimitri M. Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK
Houlden Henry Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK
Raspall-Chaure Miquel Department of Pediatric Neurology, University Hospital Vall d’Hebron, Universitat Autònoma de Barcelona, 08035, Barcelona, Spain
Hanna Michael G. SYNAPS Study Group
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Hostettler Isabel SYNAPS Study Group
O'Callaghan Benjamin SYNAPS Study Group
Khan Alaa SYNAPS Study Group
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Mine, Jun Department of Pediatrics, Shimane University School of Medicine, 89-1 Enya, Izumo, Shimane, 6938501, Japan
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Journal Title
NATURE COMMUNICATIONS
Volume
10
ISSN
2041-1723
Published Date
2019-07-12
DOI
PubMed ID
Publisher
NATURE PUBLISHING GROUP
NII Type
Journal Article
OAI-PMH Set
Faculty of Medicine
Remark
We gratefully acknowledge all the families for their enthusiastic participation to this study. Further acknowledgements can be found in Supplementary Note 29. This study was supported by the Wellcome Trust (WT093205MA and WT104033AIA), Medical Research Council (H.H. and D.M.K.), European Community's Seventh Framework Programme (FP7/2007-2013, under grant agreement No. 2012-305121 to H.H.), Muscular Dystrophy Association (MDA), Muscular Dystrophy UK, The MSA Trust, Ataxia UK, The Sparkes Children's Medical Research Charity, The Great Ormond Street Hospital Charity, Rosetrees Trust, Brain Research UK, The UK HSP Society, The European Union's Horizon 2020 research and innovation programme Solve-RD project (No 779257), The Pakistan Council (Scholarship to HT), The National Natural Science Foundation of China (31671114, 81871079, 81330027, and 81525007 to H.G. and K.X.) and the US National Institutes of Health (NIH grant R01MH101221 to E.E.E). E.E.E. is an investigator of the Howard Hughes Medical Institute. We acknowledge the CINECA Awards N. HP10BTJPER, 2017 (to SF), for the availability of high performance computing resources and support. We are also supported by the National Institute for Health Research (NIHR) University College London Hospitals (UCLH) Biomedical Research Centre (BRC). We are grateful to M. Farrant and S. Cull-Candy for helpful suggestions and the stargazin plasmid. We also acknowledge the University of Washington Center for Mendelian Genomics.
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