Zheng Yie Yap^1,36, Stephanie Efthymiou^2,36, Simone Seiffert^3,36, Karen Vargas Parra¹, Sukyeong Lee⁴, Alessia Nasca⁵, Reza Maroofian², Isabelle Schrauwen⁶, Manuela Pendziwiat⁷, Sunhee Jung⁸, Elizabeth Bhoj^9,10, Pasquale Striano^11,12, Kshitij Mankad¹³, Barbara Vona¹⁴, Sanmati Cuddapah^9,10, Anja Wagner¹⁵, Javeria Raza Alvi¹⁶, Elham Davoudi-Dehaghani¹⁷, Mohammad-Sadegh Fallah¹⁸, Srinitya Gannavarapu¹⁹, Costanza Lamperti⁵, Andrea Legati⁵, Bibi Nazia Murtaza²⁰, Muhammad Shahid Nadeem²¹, Mujaddad Ur Rehman²², Kolsoum Saeidi²³, Vincenzo Salpietro^11,12, Sarah von Spiczak^7,24, Abigail Sandoval¹, Sirous Zeinali¹⁷, Massimo Zeviani²⁵, Adi Reich²⁶, SYNaPS Study Group², University of Washington Center for Mendelian Genomics²⁷, Cholsoon Jang⁸, Ingo Helbig^{7,28,29,30,31}, Tahsin Stefan Barakat³², Daniele Ghezzi^5,33, Suzanne M. Leal^6,34, Yvonne Weber^3,35, Henry Houlden², Wan Hee Yoon^1,*

¹Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA
²Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK
³Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany
⁴Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX 77030, USA
⁵Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico “Carlo Besta,” via Temolo 4, 20126 Milan, Italy
⁶Center for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
⁷Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel 24105, Germany
⁸Department of Biological Chemistry, University of California, Irvine, Irvine, CA 92697, USA
⁹Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA
¹⁰Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA
¹¹Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16124 Genoa, Italy
¹²Pediatric Neurology and Muscular Diseases Unit, IRCCS, Istituto “Giannina Gaslini,” Genoa 16123, Italy
¹³Neuroradiology Unit, Great Ormond Street Hospital for Children, London WC1N3JH, UK
¹⁴Department of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Center, Eberhard Karls University, 72076 Tübingen, Germany
¹⁵Department of Clinical Genetics, Erasmus University Medical Center, Erasmus MC Cancer Institute, 3000 Rotterdam, the Netherlands
¹⁶Department of Pediatric Neurology, Institute of Child Health, Children Hospital Lahore, Lahore 54600, Pakistan
¹⁷Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran 1316943551, Iran
¹⁸Department of Medical Genetics, Kawsar Human Genetics Research Center, Tehran 15956-45513, Iran
¹⁹Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 5C1, Canada
²⁰Department of Zoology, Abbottabad University of Science and Technology, Abbottabad 22500, Pakistan
²¹Department of Biochemistry, King Abdulaziz University, Jeddah 21589, Saudi Arabia
²²Department of Microbiology, Abbottabad University of Science and Technology, Abbottabad 22500, Pakistan
²³Neuroscience Research Center, Institute of Neuropharmacology, Kerman University of Medical Sciences, Kerman 7616914115, Iran
²⁴DRK-Northern German Epilepsy Centre for Children and Adolescents, 24223 Schwentinental-Raisdorf, Germany
²⁵Department of Neurosciences, University of Padova, via Giustiniani 2, Padova 35128, Italy
²⁶GeneDx, Gaithersburg, MD 20877, USA
²⁷University of Washington, Seattle, WA 98195, USA
²⁸Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA
²⁹The Epilepsy NeuroGenetics Initiative, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA
³⁰Department of Biomedical and Health Informatics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA
³¹Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA 19104, USA
³²Department of Clinical Genetics, Erasmus University Medical Center, 3015 Rotterdam, the Netherlands
³³Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy
³⁴Taub Institute for Alzheimer Disease and the Aging Brain, Columbia University Medical Center, New York, NY 10032, USA
³⁵Department of Epileptology and Neurology, University of Aachen, Aachen 52074, Germany
³⁶These authors contributed equally

^*Corresponding author