ArticlemedRxiv : the preprint server for health sciences2024
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
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336 authors at 2 institutions in 2 countries.
Siwei ChenStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0003-1942-7381
Bassel W Abou-KhalilDepartment of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA.
Zaid AfawiTel-Aviv University Sackler Faculty of Medicine, Ramat Aviv 69978, Israel.
Quratulain Zulfiqar AliUniversity Health Network, University of Toronto, Toronto, ON, Canada.
Elisabetta AmadoriIRCCS Istituto Giannina Gaslini, Genova, Italy.
Alison AndersonDepartment of Medicine, University of Melbourne, Royal Melbourne Hospital, Parkville 3050, Australia.
Joe AndersonNeurology Department, Aneurin Bevan University Health Board, Newport, Wales, UK.
Danielle M AndradeUniversity Health Network, University of Toronto, Toronto, ON, Canada.
Grazia AnnesiDepartment of Medical and Surgical Sciences, Neuroscience Research Center, Magna Graecia University, Catanzaro, Italy.
Mutluay ArslanDepartment of Child Neurology, Gülhane Education and Research Hospital, Health Sciences University, Ankara, Turkey.
Pauls AuceSt George's University Hospital NHS Foundation Trust, London, UK.
Melanie BahloPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.
Mark D BakerSwansea University Medical School, Swansea University, Swansea, Wales, UK.
Ganna BalaguraDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.
Simona BalestriniDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Eric BanksData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Carmen BarbaNeuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.
Karen BarbozaUniversity Health Network, University of Toronto, Toronto, ON, Canada.
Fabrice BartolomeiClinical Neurophysiology and Epileptology Department, Timone Hospital, Marseille, France.
Nick BassDivision of Psychiatry, University College London.
Larry W BaumDepartment of Psychiatry, The University of Hong Kong, Pokulam, Hong Kong.
Tobias H BaumgartnerDepartment of Epileptology, University of Bonn Medical Centre, Bonn 53127, Germany.
Betül BaykanDepartment of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Nerses BebekDepartment of Child Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Felicitas BeckerDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.
Caitlin A BennettEpilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg 3084, Australia.
Ahmad BeydounDepartment of Neurology, American University of Beirut Medical Center, Beirut, Lebanon.
Claudia BianchiniNeuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.
Francesca BisulliDepartment of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Douglas BlackwoodDivision of Psychiatry, Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK.
Ilan BlattTel-Aviv University Sackler Faculty of Medicine, Ramat Aviv 69978, Israel.
Ingo BorggräfeDepartment of Pediatric Neurology, Dr von Hauner Children's Hospital, Ludwig Maximilians University, Munchen, Germany.
Christian BosselmannDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.
Vera BraatzDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Harrison BrandProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Knut BrockmannChildren's Hospital, Dept. of Pediatric Neurology, University Medical Center Göttingen, Göttingen, Germany.
Russell J BuonoDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.
Robyn M BuschGenomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA.
S Hande CaglayanDepartment of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey.
Laura CanafogliaIntegrated Diagnostics for Epilepsy, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy.
Christina CanavatiHereditary Research Lab, Bethlehem University, Bethlehem, Palestine.
Barbara CastellottiUnit of Medical Genetics and Neurogenetics, Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta Milano, Italy.
Gianpiero L CavalleriSchool of Pharmacy and Biomolecular Sciences, The Royal College of Surgeons in Ireland, Dublin, Ireland.
Felecia CerratoStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Francine ChassouxEpilepsy Unit, Department of Neurosurgery, Centre Hospitalier Sainte-Anne, and University Paris Descartes, Paris, France.
Christina CherianDepartment of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
Stacey S ChernyDepartment of Epidemiology and Preventive Medicine, School of Public Health, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
Ching-Lung CheungDepartment of Pharmacology and Pharmacy, The University of Hong Kong, Pokfulam, Hong Kong.
I-Jun ChouDepartment of Pediatric Neurology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
Seo-Kyung ChungSwansea University Medical School, Swansea University, Swansea, Wales, UK.
Claire ChurchhouseStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Valentina CiulloNeuropsychiatry Laboratory, IRCCS Santa Lucia Foundation, Rome, Italy.
Peggy O ClarkCincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Andrew J ColeNeurology, Massachusetts General Hospital, Boston, MA, USA.
Mahgenn CosicoDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.
Patrick CossetteDepartment of Neurosciences, Université de Montréal, Montréal, CA 26758, Canada.
Chris CotsapasYale School of Medicine, New Haven, CT 06510, USA.
Caroline CusickStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Mark J DalyStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Lea K DavisDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Peter De JongheApplied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
Norman DelantySchool of Pharmacy and Biomolecular Sciences, The Royal College of Surgeons in Ireland, Dublin, Ireland.
Dieter DennigPrivate Neurological Practice, Stuttgart, Germany.
Chantal DepondtDepartment of Neurology, CUB Erasme Hospital, Hôpital Universitaire de Bruxelles (H.U.B.), Université Libre de Bruxelles (ULB), 1070 Brussels, Belgium.
Philippe DerambureDepartment of Clinical Neurophysiology, Lille University Medical Center, EA 1046, University of Lille.
Orrin DevinskyDepartment of Neurology, New York University/Langone Health, New York NY, USA.
Lidia Di VitoIRCCS Istituto delle Scienze Neurologiche di Bologna, (Reference Center for Rare and Complex Epilepsies - EpiCARE), Bologna, Italy.
Faith DickersonSheppard Pratt, 6501 North Charles Street, Baltimore, Maryland, USA.
Dennis J DlugosDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.
Viola DocciniNeuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.
Colin P DohertyThe FutureNeuro Research Centre, Dublin, Ireland.
Hany El-NaggarThe FutureNeuro Research Centre, Dublin, Ireland.
Colin A EllisDepartment of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, 19104 USA.
Leon EpsteinDivision of Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL USA.
Meghan EvansDepartment of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.
Annika FauconHuman Genetics Training Program, Vanderbilt University, Nashville, TN, USA.
Yen-Chen Anne FengStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Lisa FergusonCleveland Clinic Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA.
Thomas N FerraroDepartment of Biomedical Sciences, Cooper Medical School of Rowan University Camden, NJ 08103, USA.
Izabela Ferreira Da SilvaLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette L-4362, Luxembourg.
Lorenzo FerriDepartment of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Martha FeuchtDepartment of Pediatrics and Neonatology, Medical University of Vienna, Vienna 1090, Austria.
Madeline C FieldsDepartment of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Mark FitzgeraldDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.
Beata Fonferko-ShadrachSwansea University Medical School, Swansea University, Swansea, Wales, UK.
Francesco FortunatoInstitute of Neurology, Department of Medical and Surgical Sciences, University "Magna Graecia", Catanzaro, Italy.
Silvana FranceschettiNeurophysiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Jacqueline A FrenchDepartment of Neurology, New York University/Langone Health, New York NY, USA.
Elena FreriDepartment of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Jack M FuProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Stacey GabrielProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Monica GagliardiDepartment of Medical and Surgical Sciences, Neuroscience Research Center, Magna Graecia University, Catanzaro, Italy.
Antonio GambardellaInstitute of Neurology, Department of Medical and Surgical Sciences, University "Magna Graecia", Catanzaro, Italy.
Laura GauthierData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Tania GiangregorioIRCCS Azienda Ospedaliero-Universitaria di Bologna, Medical Genetics Unit, Bologna, Italy.
Tommaso GiliNeuropsychiatry Laboratory, IRCCS Santa Lucia Foundation, Rome, Italy.
Tracy A GlauserCincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Ethan GoldbergDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.
Alica GoldmanDepartment of Neurology, Baylor College of Medicine.
David B GoldsteinInstitute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA.
Tiziana GranataDepartment of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Riley GrantProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
David A GreenbergDepartment of Pediatrics, Nationwide Children's Hospital, Columbia, Ohio, USA.
Renzo GuerriniNeuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.
Aslı Gundogdu-EkenDepartment of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey.
Namrata GuptaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Kevin HaasDepartment of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA.
Hakon HakonarsonDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.
Garen HaryanyanDepartment of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Martin HäuslerDivision of Neuropediatrics and Social Pediatrics, Department of Pediatrics, University Hospital, RWTH Aachen, Aachen, Germany.
Manu HegdeDepartment of Neurology, University of California, San Francisco, CA 94143, USA.
Erin L HeinzenDivision of Pharmacotherapy and Experimental Therapeutics, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA.
Ingo HelbigDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.
Christian HengsbachDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.
Henrike HeyneProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Shinichi HiroseGeneral Medical Research Center, School of Medicine, Fukuoka University, Japan.
Edouard HirschDepartment of Neurology, University Hospital of Strasbourg, Strasbourg, France.
Chen-Jui HoDepartment of Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan.
Olivia HoeperEpilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg 3084, Australia.
Daniel P HowriganStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Donald HucksDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Po-Chen HungDepartment of Pediatric Neurology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
Michele IacominoIRCCS Istituto Giannina Gaslini, Genova, Italy.
Yushi InoueNational Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorder, Shizuoka, Japan.
Luciana Midori InuzukaEpilepsy Clinic, Hospital Sirio-Libanes, Sao Paulo, Brazil.
Atsushi IshiiDepartment of Pediatrics, Fukuoka Sanno Hospital, Japan.
Lara JehiCleveland Clinic Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA.
Michael R JohnsonDivision of Brain Sciences, Imperial College London, London SW7 2AZ, UK.
Mandy JohnstoneDivision of Psychiatry, Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK.
Reetta KälviäinenKuopio Epilepsy Center, Neurocenter, Kuopio University Hospital, Kuopio 70210, Finland.
Moien KanaanHereditary Research Lab, Bethlehem University, Bethlehem, Palestine.
Bulent KaraDepartment of Child Neurology, Medical School, Kocaeli University, Kocaeli, Turkey.
Symon M KariukiNeuroscience Unit, KEMRI-Wellcome Trust Research Programme, Kilifi, Kenya.
Josua KegeleDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.
Yeşim KesimDepartment of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Nathalie Khoueiry-ZgheibDepartment of Pharmacology and Toxicology, American University of Beirut Faculty of Medicine, Beirut, Lebanon.
Jean KhouryCleveland Clinic Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA.
Chontelle KingDepartment of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.
Karl Martin KleinDepartment of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
Gerhard KlugerNeuropediatric Clinic and Clinic for Neurorehabilitation, Epilepsy Center for Children and Adolescents, Vogtareuth, Germany.
Susanne KnakeLOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe University Frankfurt, Germany.
Fernando KokDepartment of Neurology, University of Sao Paulo School of Medicine, Brazil.
Amos D KorczynTel-Aviv University Sackler Faculty of Medicine, Ramat Aviv 69978, Israel.
Rudolf KorinthenbergDepartment of Neuropediatrics and Muscular Disorders, University Medical Center, University of Freiburg, Freiburg, Germany.
Andreas KoupparisCyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Ioanna KousiappaCyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Roland KrauseLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette L-4362, Luxembourg.
Martin KrennDepartment of Neurology, Medical University of Vienna, Vienna 1090, Austria.
Heinz KrestelYale School of Medicine, New Haven, CT 06510, USA.
Ilona KreyInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Wolfram S KunzDepartment of Epileptology, University of Bonn Medical Centre, Bonn 53127, Germany.
Gerhard KurlemannBonifatius Hospital Lingen, Neuropediatrics Wilhelmstrasse 13, 49808 Lingen, Germany.
Ruben I KuznieckyDepartment of Neurology, Hofstra-Northwell Medical School, New York, NY, USA.
Patrick KwanDepartment of Medicine, University of Melbourne, Royal Melbourne Hospital, Parkville 3050, Australia.
Maite La Vega-TalbottDepartment of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Angelo LabateNeurophysiopatology and Movement Disorders Clinic, University of Messina, Messina, Italy.
Austin LaceySchool of Pharmacy and Biomolecular Sciences, The Royal College of Surgeons in Ireland, Dublin, Ireland.
Dennis LalGenomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA.
Petra LaššuthováDepartment of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic.
Stephan LauxmannDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.
Charlotte LawthomNeurology Department, Aneurin Bevan University Health Board, Newport, Wales, UK.
Stephanie L LeechEpilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg 3084, Australia.
Anna-Elina LehesjokiFolkhälsan Research Center, Helsinki 00290, Finland.
Johannes R LemkeInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Holger LercheDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.
Gaetan LescaDepartment of Medical Genetics, Hospices Civils de Lyon and University of Lyon, Lyon, France.
Costin LeuDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Naomi LewinDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.
David Lewis-SmithDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.
Gloria Hoi-Yee LiDepartment of Health Technology and Informatics, The Hong Kong Polytechnic University, Hung Hum, Hong Kong.
Calwing LiaoStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Laura LicchettaIRCCS Istituto delle Scienze Neurologiche di Bologna, (Reference Center for Rare and Complex Epilepsies - EpiCARE), Bologna, Italy.
Chih-Hsiang LinDepartment of Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan.
Kuang-Lin LinDepartment of Pediatric Neurology, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
Tarja LinnankiviChild Neurology, New Childreńs Hospital, Helsinki, Finland.
Warren LoDepartment of Pediatrics and Neurology, Nationwide Children's Hospital, Columbus, OH, USA.
Daniel H LowensteinDepartment of Neurology, University of California, San Francisco, CA 94143, USA.
Chelsea LowtherProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Laura LubbersCitizens United for Research in Epilepsy, Chicago, Illinois, USA.
Colin H T LuiDepartment of Medicine, Tseung Kwan O Hospital, Hong Kong.
Lucia Inês Macedo-SouzaDepartment of Biology, Institute of Biological Sciences and Center for Study on Human Genome, University of São Paulo, São Paulo, Brazil.
Rene MadeleynDepartment of Pediatrics, Filderklinik, Filderstadt, Germany.
Francesca MadiaIRCCS Istituto Giannina Gaslini, Genova, Italy.
Stefania MagriUnit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Louis MaillardNeurology Department, University Hospital of Nancy, UMR 7039, CNRS, Lorraine University, Nancy, France.
Lara MarcuseDepartment of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Paula MarquesUniversity Health Network, University of Toronto, Toronto, ON, Canada.
Anthony G MarsonDepartment of Pharmacology and Therapeutics, University of Liverpool, Liverpool L69 3GL, UK.
Abigail G MatthewsThe Emmes Company, Rockville, MD, USA.
Patrick MayLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette L-4362, Luxembourg.
Thomas MayerEpilepsy Center Kleinwachau, Radeberg 01454, Germany.
Wendy McArdlePopulation Health Sciences, Bristol Medical School, University of Bristol, Bristol BS8 2BN, UK.
Steven M McCarrollStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Patricia McGoldrickDepartment of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Christopher M McGrawNeurology, Massachusetts General Hospital, Boston, MA, USA.
Andrew McIntoshDivision of Psychiatry, Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK.
Andrew McQuillanDivision of Psychiatry, University College London.
Kimford J MeadorStanford University, Palo Alto, CA, USA.
Davide MeiNeuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.
Véronique MichelDepartment of Neurology, Hôpital Pellegrin, Bordeaux, France.
John J MillichapNeurology, Northwestern University, Chicago, IL USA.
Raffaella MinardiIRCCS Istituto delle Scienze Neurologiche di Bologna, (Reference Center for Rare and Complex Epilepsies - EpiCARE), Bologna, Italy.
Martino MontomoliNeuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.
Barbara MostacciIRCCS Istituto delle Scienze Neurologiche di Bologna, (Reference Center for Rare and Complex Epilepsies - EpiCARE), Bologna, Italy.
Lorenzo MuccioliDepartment of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Hiltrud MuhleDepartment of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany.
Karen Müller-SchlüterEpilepsy Center for Children, University Hospital Ruppin-Brandenburg, Brandenburg Medical School, 16816 Neuruppin, Germany.
Imad M NajmCleveland Clinic Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA.
Wassim NasreddineDepartment of Neurology, American University of Beirut Medical Center, Beirut, Lebanon.
Samuel NeavesPopulation Health Sciences, Bristol Medical School, University of Bristol, Bristol BS8 2BN, UK.
Bernd A NeubauerPediatric Neurology, University of Giessen, Germany.
Charles R J C NewtonNeuroscience Unit, KEMRI-Wellcome Trust Research Programme, Kilifi, Kenya.
Jeffrey L NoebelsDepartment of Neurology, Baylor College of Medicine.
Kate NorthstonePopulation Health Sciences, Bristol Medical School, University of Bristol, Bristol BS8 2BN, UK.
Sam NovodData Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Terence J O'BrienDepartment of Medicine, University of Melbourne, Royal Melbourne Hospital, Parkville 3050, Australia.
Seth Owusu-AgyeiKintampo Health Research Centre, Ghana Health Service, Kintampo, Ghana.
Çiğdem ÖzkaraIstanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Department of Neurology, Istanbul, Turkey.
Aarno PalotieStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Savvas S PapacostasCyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Elena ParriniNeuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.
Carlos PatoDepartments of Psychiatry, Rutgers University, Robert Wood Johnson Medical School and New Jersey Medical School, New Brunswick, NJ, USA.
Michele PatoDepartments of Psychiatry, Rutgers University, Robert Wood Johnson Medical School and New Jersey Medical School, New Brunswick, NJ, USA.
Manuela PendziwiatDepartment of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany.
Page B PennellUniversity of Pittsburgh, Pittsburgh, PA, USA.
Slavé PetrovskiDepartment of Medicine, University of Melbourne, Royal Melbourne Hospital, Parkville 3050, Australia.
William O PickrellSwansea University Medical School, Swansea University, Swansea, Wales, UK.
Rebecca PinskyEpilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
Dalila PintoDepartment of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Tommaso PippucciIRCCS Azienda Ospedaliero-Universitaria di Bologna, Medical Genetics Unit, Bologna, Italy.
Fabrizio PirasNeuropsychiatry Laboratory, IRCCS Santa Lucia Foundation, Rome, Italy.
Federica PirasNeuropsychiatry Laboratory, IRCCS Santa Lucia Foundation, Rome, Italy.
Annapurna PoduriEpilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
Federica PondrelliDepartment of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Danielle PosthumaDepartment of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU Amsterdam, Amsterdam, the Netherlands.
Robert H W PowellSwansea University Medical School, Swansea University, Swansea, Wales, UK.
Michael PriviteraDepartment of Neurology, Gardner Neuroscience Institute, University of Cincinnati Medical Center, Cincinnati, OH 45220, USA.
Annika RademacherDepartment of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany.
Francesca RagonaDepartment of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Byron Ramirez-HamouzDepartment of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Sarah RauDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.
Hillary R RaynesDepartment of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Mark I ReesSwansea University Medical School, Swansea University, Swansea, Wales, UK.
Brigid M ReganEpilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg 3084, Australia.
Andreas ReifDepartment of Psychiatry, Psychosomatic Medicine and Psychotherapy, University Hospital Frankfurt.
Eva ReinthalerDepartment of Neurology, Medical University of Vienna, Vienna 1090, Austria.
Sylvain RheimsDepartment of Functional Neurology and Epileptology, Hospices Civils de Lyon and University of Lyon, France.
Susan M RingPopulation Health Sciences, Bristol Medical School, University of Bristol, Bristol BS8 2BN, UK.
Antonella RivaIRCCS Istituto Giannina Gaslini, Genova, Italy.
Enrique RojasDivision of Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL USA.
Felix RosenowEpilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, Goethe University Frankfurt, Frankfurt, Germany.
Philippe RyvlinDepartment of Clinical Neurosciences, Centre Hospitalo-Universitaire Vaudois, Lausanne, Switzerland.
Anni SaarelaKuopio Epilepsy Center, Neurocenter, Kuopio University Hospital, Kuopio 70210, Finland.
Lynette G SadleirDepartment of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.
Barış SalmanDepartment of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.
Andrea SalmonDepartment of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
Vincenzo SalpietroIRCCS Istituto Giannina Gaslini, Genova, Italy.
Ilaria SammarraDepartment of Medical and Surgical Sciences, Neuroscience Research Center, Magna Graecia University, Catanzaro, Italy.
Marcello ScalaIRCCS Istituto Giannina Gaslini, Genova, Italy.
Steven SchachterDepartments of Neurology, Beth Israel Deaconess Medical Center, Massachusetts General Hospital, and Harvard Medical School, Boston, MA 02215, USA.
André SchallerInstitute of Human Genetics, Bern University Hospital, Bern, Switzerland.
Christoph J SchankinDepartment of Neurology, Inselspital, Bern University Hospital, University of Bern, Bern 3010, Switzerland.
Ingrid E SchefferEpilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg 3084, Australia.
Natascha SchneiderDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Susanne Schubert-BastEpilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, Goethe University Frankfurt, Frankfurt, Germany.
Andreas Schulze-BonhageDepartment of Epileptology, University Hospital Freiburg, Freiburg, Germany.
Paolo ScudieriIRCCS Istituto Giannina Gaslini, Genova, Italy.
Lucie SedláčkováDepartment of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic.
Catherine ShainEpilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
Pak C ShamDepartment of Psychiatry, The University of Hong Kong, Pokulam, Hong Kong.
Beth R ShiedleyEpilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
S Anthony SienaMedical School, Nova Southeastern University, Fort Lauderdale, FL, USA.
Graeme J SillsSchool of Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK.
Sanjay M SisodiyaDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Jordan W SmollerPsychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Matthew SolomonsonProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Gianfranco SpallettaNeuropsychiatry Laboratory, IRCCS Santa Lucia Foundation, Rome, Italy.
Kathryn R SparksDivision of Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL USA.
Michael R SperlingDepartment of Neurology and Comprehensive Epilepsy Center, Thomas Jefferson University, Philadelphia, PA 19107, USA.
Hannah StambergerApplied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
Bernhard J SteinhoffEpilepsy Center Kork, Kehl-Kork 77694, Germany.
Ulrich StephaniDepartment of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany.
Katalin ŠtěrbováDepartment of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic.
William C StewartDepartment of Pediatrics, Nationwide Children's Hospital, Columbia, Ohio, USA.
Carlotta StipaIRCCS Istituto delle Scienze Neurologiche di Bologna, (Reference Center for Rare and Complex Epilepsies - EpiCARE), Bologna, Italy.
Pasquale StrianoIRCCS Istituto Giannina Gaslini, Genova, Italy.
Adam StrzelczykEpilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, Goethe University Frankfurt, Frankfurt, Germany.
Rainer SurgesDepartment of Epileptology, University of Bonn Medical Centre, Bonn 53127, Germany.
Toshimitsu SuzukiDepartment of Neurodevelopmental Disorder Genetics, Institute of Brain Science, Nagoya City University Graduate School of Medical Science, Nagoya, Aichi, Japan.
Mariagrazia TalaricoDepartment of Medical and Surgical Sciences, Neuroscience Research Center, Magna Graecia University, Catanzaro, Italy.
Michael E TalkowskiProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Randip S TanejaDepartment of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA.
George A TantelesCyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Oskari TimonenInstitute of Clinical Medicine, University of Eastern Finland, Kuopio 70210, Finland.
Nicholas John TimpsonPopulation Health Sciences, Bristol Medical School, University of Bristol, Bristol BS8 2BN, UK.
Paolo TinuperDepartment of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Marian TodaroDepartment of Medicine, University of Melbourne, Royal Melbourne Hospital, Parkville 3050, Australia.
Pınar TopalogluDepartment of Child Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Meng-Han TsaiDepartment of Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan.
Birute TumieneCentre for Medical Genetics, Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania.
Dilsad TurkdoganDepartment of Child Neurology, Medical School, Marmara University, Istanbul, Turkey.
Sibel Uğur-İşeriDepartment of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.
Algirdas UtkusCentre for Medical Genetics, Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania.
Priya VaidiswaranDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.
Luc ValtonDepartment of Neurology, UMR 5549, CNRS, Toulouse University Hospital, University of Toulouse, Toulouse, France.
Andreas van BaalenDepartment of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany.
Maria Stella VariIRCCS Istituto Giannina Gaslini, Genova, Italy.
Annalisa VetroNeuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.
Markéta VlčkováDepartment of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic.
Sophie von BrauchitschEpilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, Goethe University Frankfurt, Frankfurt, Germany.
Sarah von SpiczakDepartment of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany.
Ryan G WagnerMRC/Wits Rural Public Health & Health Transitions Research Unit (Agincourt), School of Public Health, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Nick WattsProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Yvonne G WeberDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.
Sarah WeckhuysenApplied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
Peter Widdess-WalshSchool of Pharmacy and Biomolecular Sciences, The Royal College of Surgeons in Ireland, Dublin, Ireland.
Samuel WiebeDepartment of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
Steven M WolfDepartment of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Markus WolffDepartment of Pediatric Neurology, Vivantes Hospital Neukölln, 12351 Berlin, Germany.
Stefan WolkingDepartment of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.
Isaac WongProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Randi von WredeDepartment of Epileptology, University of Bonn Medical Centre, Bonn 53127, Germany.
David WuHuman Genetics Training Program, Vanderbilt University, Nashville, TN, USA.
Kazuhiro YamakawaDepartment of Neurodevelopmental Disorder Genetics, Institute of Brain Science, Nagoya City University Graduate School of Medical Science, Nagoya, Aichi, Japan.
Zuhal YapıcıDepartment of Child Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Uluc YisDepartment of Child Neurology, Medical School, Dokuz Eylul University, Izmir, Turkey.
Robert YolkenStanley Division of Developmental Neurovirology, Johns Hopkins University, Baltimore, Maryland, USA.
Emrah YücesanBezmialem Vakif University, Institute of Life Sciences and Biotechnology, Istanbul, Turkey.
Sara ZagagliaDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Felix ZahnertLOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe University Frankfurt, Germany.
Federico ZaraIRCCS Istituto Giannina Gaslini, Genova, Italy.
Fritz ZimprichDepartment of Neurology, Medical University of Vienna, Vienna 1090, Austria.
Milena ZizovicLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette L-4362, Luxembourg.
Gábor ZsurkaDepartment of Epileptology, University of Bonn Medical Centre, Bonn 53127, Germany.
Benjamin M NealeStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0003-1513-6077
Samuel F BerkovicEpilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg 3084, Australia.ORCID 0000-0003-4580-841X
Broad Institute · USThe University of Melbourne · AU
Funding
Center for Common Disease GeneticsUM1HG008895 · NHGRI · BROAD INSTITUTE, INC. · PI DALY, MARK JOSEPH, GABRIEL, STACEY · 2016 to 2020
$111.2MPowering whole genome sequence-based genetic discovery for common human diseases- Extended 2021-2022.U01HG009088 · NHGRI · HARVARD SCHOOL OF PUBLIC HEALTH · PI LIN, XIHONG, NEALE, BENJAMIN MICHAEL · 2016 to 2021
$5.1MIntegrative genomics to map risk genes and pathways in autism and epilepsyR01MH110555 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI PINTO, DALILA · 2016 to 2020
$3.9MShared Genetics and Risk Factors Between Epilepsy and Psychiatric DiseaseR01NS106104 · NINDS · YALE UNIVERSITY · PI BRENNAND, KRISTEN JENNIFER · 2019 to 2023
$2.5MEpi25 Clinical Phenotyping R03R03NS108145 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI LOWENSTEIN, DANIEL H · 2018 to 2019
$137kMedical Research Council MR/S02638X/1NHGRI NIH HHS U01 HG009088NHGRI NIH HHS UM1 HG008895NIMH NIH HHS R01 MH110555NINDS NIH HHS R01 NS106104NINDS NIH HHS R03 NS108145
Abstract
Identifying genetic risk factors for highly heterogeneous disorders like epilepsy remains challenging. Here, we present the largest whole-exome sequencing study of epilepsy to date, with >54,000 human exomes, comprising 20,979 deeply phenotyped patients from multiple genetic ancestry groups with diverse epilepsy subtypes and 33,444 controls, to investigate rare variants that confer disease risk. These analyses implicate seven individual genes, three gene sets, and four copy number variants at exome-wide significance. Genes encoding ion channels show strong association with multiple epilepsy subtypes, including epileptic encephalopathies, generalized and focal epilepsies, while most other gene discoveries are subtype-specific, highlighting distinct genetic contributions to different epilepsies. Combining results from rare single nucleotide/short indel-, copy number-, and common variants, we offer an expanded view of the genetic architecture of epilepsy, with growing evidence of convergence among different genetic risk loci on the same genes. Top candidate genes are enriched for roles in synaptic transmission and neuronal excitability, particularly postnatally and in the neocortex. We also identify shared rare variant risk between epilepsy and other neurodevelopmental disorders. Our data can be accessed via an interactive browser, hopefully facilitating diagnostic efforts and accelerating the development of follow-up studies.
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