Author information:
(1)Department of Neurology and Hertie-Institute for Clinical Brain Research, 
University of Tübingen, 72076 Tübingen, Germany; German Center of 
Neurodegenerative Diseases, 72076 Tübingen, Germany.
(2)Division of Medical Genetics, Department of Pediatrics, Dalhousie University, 
Halifax, NS B3K 6R8, Canada.
(3)Maritime Medical Genetics Service IWK Health Centre, Halifax, NS B3R 6R8 
Canada.
(4)Institute of Human Genetics, Medical University of Innsbruck, Peter-Mayr. 
Str. 1, 6020 Innsbruck, Austria; Institute of Human Genetics, Technical 
University of Munich, Trogerstr. 32, 81675 Munich, Germany.
(5)Department of Pediatrics, Landeskrankenhaus Bregenz, Carl-Pedenz-Str. 2, 6900 
Bregenz, Austria.
(6)Department of Pathology and Histology, Al-Quds University, Eastern Jerusalem 
19356, Palestine.
(7)Palestine Medical Complex, Ramallah, Palestine.
(8)Department of Translational Genomics, Center for Genomic Medicine, King 
Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; 
Department of Anatomy and Cell Biology, College of Medicine, Alfaisal 
University, Riyadh 11533, Saudi Arabia.
(9)Department of Medical Genetics, King Faisal Specialist Hospital and Research 
Center, Riyadh 11564, Saudi Arabia.
(10)Department of Translational Genomics, Center for Genomic Medicine, King 
Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
(11)Department of Molecular and Human Genetics, Baylor College of Medicine, 
Houston, TX 77030, USA.
(12)Department of Medical Genetics, Cukurova University Faculty of Medicine, 
01330 Adana, Turkey.
(13)Department of Molecular and Human Genetics, Baylor College of Medicine, 
Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, 
Houston, TX 77030, USA.
(14)Department of Molecular and Human Genetics, Baylor College of Medicine, 
Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, 
Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
(15)Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, 
Department of Neurosciences, University of California, San Diego, La Jolla, CA 
92093, USA.
(16)Medical Genetics Research Center, Shahid Sadoughi University of Medical 
Sciences, Yazd, Iran.
(17)Abortion Research Centre, Yazd Reproductive Sciences Institute, Shahid 
Sadoughi University of Medical Sciences, Yazd, Iran.
(18)Department of Neurology and Institute of Human Genetics and Weill Institute 
for Neurosciences, University of California, San Francisco, San Francisco, CA 
94158, USA.
(19)GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
(20)Department of Genetics, Faculty of Science, Shahid Chamran University of 
Ahvaz, Ahvaz, Iran.
(21)Faculty of Medicine, Al-Quds University, Eastern Jerusalem 19356, Palestine.
(22)Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur 
University of Medical Sciences, Ahvaz, Iran.
(23)Department of Paediatric Neurology, Golestan Medical, Educational, and 
Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
(24)National Institute for Health Research Oxford Biomedical Research Centre, 
Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
(25)Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester 
University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 
9WL, UK.
(26)Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester 
University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 
9WL, UK; Division of Evolution and Genomic Sciences, School of Biological 
Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, 
Manchester M13 9WL, UK.
(27)Division of Evolution and Genomic Sciences, School of Biological Sciences, 
Faculty of Biology, Medicine, and Health, University of Manchester, Manchester 
M13 9WL, UK.
(28)Children's Hospital of Eastern Ontario Research Institute, University of 
Ottawa, Ottawa, ON K1H 8L1, Canada.
(29)Genomics England, London EC1M 6BQ, UK.
(30)Institute of Medical Genetics and Applied Genomics, University of Tübingen, 
72076 Tübingen, Germany.
(31)Department of Neuroradiology, University Hospital of Tuebingen, 72076 
Tübingen, Germany.
(32)Institute of Medical Genetics and Applied Genomics, University of Tübingen, 
72076 Tübingen, Germany; NGS Competence Center Tübingen, University of Tübingen, 
72076 Tübingen, Germany.
(33)Proteome Center Tübingen, University of Tübingen, 72076 Tübingen, Germany.
(34)Department of Neuromuscular Disorders, Queen Square Institute of Neurology, 
University College London, London WC1N 3BG, UK.
(35)Department of Neuromuscular Disorders, Queen Square Institute of Neurology, 
University College London, London WC1N 3BG, UK. Electronic address: 
rmaroofian@gmail.com.
(36)Department of Neurology and Hertie-Institute for Clinical Brain Research, 
University of Tübingen, 72076 Tübingen, Germany; German Center of 
Neurodegenerative Diseases, 72076 Tübingen, Germany. Electronic address: 
ludger.schoels@uni-tuebingen.de.