CHD2 variants are a risk factor for photosensitivity in epilepsy

Autor: Ec, Galizia, Ct, Myers, Costin Leu, Cg, Kovel, Afrikanova T, Ml, Cordero-Maldonado, Tg, Martins, Jacmin M, Drury S, Krishna Chinthapalli V, Muhle H, Pendziwiat M, Sander T, Ak, Ruppert, Rs, Møller, Thiele H, Krause R, Schubert J, Ae, Lehesjoki, Nürnberg P, Lerche H, EuroEPINOMICS CoGIE Consortium, Palotie A, Coppola A, Striano S, Ld, Gaudio, Boustred C, Al, Schneider, Lench N, Jocic-Jakubi B, Covanis A, Capovilla G, Veggotti P, Piccioli M, Parisi P, Cantonetti L, Lg, Sadleir, Sa, Mullen, Sf, Berkovic, Stephani U, Helbig I, Ad, Crawford, Cv, Esguerra, Dg, Kasteleijn-Nolst Trenité, Bp, Koeleman, Hc, Mefford, Ie, Scheffer, Sm, Sisodiya

Publikováno v: Europe PubMed Central
Brain

Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::bfebb7b7a67a5b1767321d372419498b
http://europepmc.org/abstract/med/25783594

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Autor: Chen S; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Abou-Khalil BW; Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA., Afawi Z; Tel-Aviv University Sackler Faculty of Medicine, Ramat Aviv 69978, Israel., Ali QZ; University Health Network, University of Toronto, Toronto, ON, Canada., Amadori E; IRCCS Istituto Giannina Gaslini, Genova, Italy., Anderson A; Department of Medicine, University of Melbourne, Royal Melbourne Hospital, Parkville 3050, Australia.; Department of Neuroscience, The School of Translational Medicine, Alfred Health, Monash University, Melbourne 3004, Australia., Anderson J; Neurology Department, Aneurin Bevan University Health Board, Newport, Wales, UK., Andrade DM; University Health Network, University of Toronto, Toronto, ON, Canada., Annesi G; Department of Medical and Surgical Sciences, Neuroscience Research Center, Magna Graecia University, Catanzaro, Italy., Arslan M; Department of Child Neurology, Gülhane Education and Research Hospital, Health Sciences University, Ankara, Turkey., Auce P; St George's University Hospital NHS Foundation Trust, London, UK., Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville 3052, Australia.; Department of Biology, University of Melbourne, Parkville 3010, Australia., Baker MD; Swansea University Medical School, Swansea University, Swansea, Wales, UK., Balagura G; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy., Balestrini S; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Chalfont Centre for Epilepsy, Chalfont-St-Peter, Buckinghamshire SL9 0RJ, UK., Banks E; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Barba C; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Barboza K; University Health Network, University of Toronto, Toronto, ON, Canada., Bartolomei F; Clinical Neurophysiology and Epileptology Department, Timone Hospital, Marseille, France., Bass N; Division of Psychiatry, University College London., Baum LW; Department of Psychiatry, The University of Hong Kong, Pokulam, Hong Kong., Baumgartner TH; Department of Epileptology, University of Bonn Medical Centre, Bonn 53127, Germany., Baykan B; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Bebek N; Department of Child Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey., Becker F; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.; Department of Neurology, University of Ulm, Ulm 89081, Germany., Bennett CA; Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg 3084, Australia., Beydoun A; Department of Neurology, American University of Beirut Medical Center, Beirut, Lebanon., Bianchini C; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Bisulli F; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, (Reference Center for Rare and Complex Epilepsies - EpiCARE), Bologna, Italy., Blackwood D; Division of Psychiatry, Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK., Blatt I; Tel-Aviv University Sackler Faculty of Medicine, Ramat Aviv 69978, Israel.; Department of Neurology, Sheba Medical Center, Ramat Gan, Israel., Borggräfe I; Department of Pediatric Neurology, Dr von Hauner Children's Hospital, Ludwig Maximilians University, Munchen, Germany., Bosselmann C; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany., Braatz V; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Chalfont Centre for Epilepsy, Chalfont-St-Peter, Buckinghamshire SL9 0RJ, UK., Brand H; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Brockmann K; Children's Hospital, Dept. of Pediatric Neurology, University Medical Center Göttingen, Göttingen, Germany., Buono RJ; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.; Department of Biomedical Sciences, Cooper Medical School of Rowan University Camden, NJ 08103, USA.; Department of Neurology, Thomas Jefferson University Hospital, Philadelphia, PA 19107, USA., Busch RM; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA.; Cleveland Clinic Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA.; Department of Neurology, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA., Caglayan SH; Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey., Canafoglia L; Integrated Diagnostics for Epilepsy, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy., Canavati C; Hereditary Research Lab, Bethlehem University, Bethlehem, Palestine., Castellotti B; Unit of Medical Genetics and Neurogenetics, Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta Milano, Italy., Cavalleri GL; School of Pharmacy and Biomolecular Sciences, The Royal College of Surgeons in Ireland, Dublin, Ireland.; The FutureNeuro Research Centre, Dublin, Ireland., Cerrato F; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Chassoux F; Epilepsy Unit, Department of Neurosurgery, Centre Hospitalier Sainte-Anne, and University Paris Descartes, Paris, France., Cherian C; Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Cherny SS; Department of Epidemiology and Preventive Medicine, School of Public Health, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel., Cheung CL; Department of Pharmacology and Pharmacy, The University of Hong Kong, Pokfulam, Hong Kong., Chou IJ; Department of Pediatric Neurology, Chang Gung Memorial Hospital, Taoyuan, Taiwan., Chung SK; Swansea University Medical School, Swansea University, Swansea, Wales, UK.; Kids Research, Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.; Brain & Mind Centre, Faculty of Medicine & Health, University of Sydney, Sydney, New South Wales, Australia., Churchhouse C; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Ciullo V; Neuropsychiatry Laboratory, IRCCS Santa Lucia Foundation, Rome, Italy.; Department of Neurosciences, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy., Clark PO; Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Cole AJ; Neurology, Massachusetts General Hospital, Boston, MA, USA., Cosico M; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA., Cossette P; Department of Neurosciences, Université de Montréal, Montréal, CA 26758, Canada., Cotsapas C; Yale School of Medicine, New Haven, CT 06510, USA., Cusick C; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Daly MJ; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.; Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki, Helsinki, Finland., Davis LK; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Department of Psychiatry and Behavioral Sciences, Vanderbilt University Medical Center, Nashville, TN, USA.; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA., Jonghe P; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Department of Neurology, Antwerp University Hospital, Edegem 2650, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium., Delanty N; School of Pharmacy and Biomolecular Sciences, The Royal College of Surgeons in Ireland, Dublin, Ireland.; The FutureNeuro Research Centre, Dublin, Ireland.; Department of Neurology, Beaumont Hospital, Dublin D09 FT51, Ireland., Dennig D; Private Neurological Practice, Stuttgart, Germany., Depondt C; Department of Neurology, CUB Erasme Hospital, Hôpital Universitaire de Bruxelles (H.U.B.), Université Libre de Bruxelles (ULB), 1070 Brussels, Belgium., Derambure P; Department of Clinical Neurophysiology, Lille University Medical Center, EA 1046, University of Lille., Devinsky O; Department of Neurology, New York University/Langone Health, New York NY, USA., Di Vito L; IRCCS Istituto delle Scienze Neurologiche di Bologna, (Reference Center for Rare and Complex Epilepsies - EpiCARE), Bologna, Italy., Dickerson F; Sheppard Pratt, 6501 North Charles Street, Baltimore, Maryland, USA., Dlugos DJ; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Doccini V; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Doherty CP; The FutureNeuro Research Centre, Dublin, Ireland.; Neurology Department, St. James's Hospital, Dublin D03 VX82, Ireland., El-Naggar H; The FutureNeuro Research Centre, Dublin, Ireland.; Department of Neurology, Beaumont Hospital, Dublin D09 FT51, Ireland., Ellis CA; Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, 19104 USA., Epstein L; Division of Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL USA., Evans M; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Faucon A; Human Genetics Training Program, Vanderbilt University, Nashville, TN, USA., Feng YA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Division of Biostatistics, Institute of Epidemiology and Preventive Medicine, College of Public Health, National Taiwan University, Taipei 100, Taiwan., Ferguson L; Cleveland Clinic Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA., Ferraro TN; Department of Biomedical Sciences, Cooper Medical School of Rowan University Camden, NJ 08103, USA.; Department of Pharmacology and Psychiatry, University of Pennsylvania Perlman School of Medicine, Philadelphia, PA 19104, USA., Da Silva IF; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette L-4362, Luxembourg., Ferri L; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, (Reference Center for Rare and Complex Epilepsies - EpiCARE), Bologna, Italy., Feucht M; Department of Pediatrics and Neonatology, Medical University of Vienna, Vienna 1090, Austria., Fields MC; Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Fitzgerald M; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.; Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, 19104 USA., Fonferko-Shadrach B; Swansea University Medical School, Swansea University, Swansea, Wales, UK., Fortunato F; Institute of Neurology, Department of Medical and Surgical Sciences, University 'Magna Graecia', Catanzaro, Italy., Franceschetti S; Neurophysiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., French JA; Department of Neurology, New York University/Langone Health, New York NY, USA., Freri E; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Fu JM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Gabriel S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Gagliardi M; Department of Medical and Surgical Sciences, Neuroscience Research Center, Magna Graecia University, Catanzaro, Italy., Gambardella A; Institute of Neurology, Department of Medical and Surgical Sciences, University 'Magna Graecia', Catanzaro, Italy., Gauthier L; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Giangregorio T; IRCCS Azienda Ospedaliero-Universitaria di Bologna, Medical Genetics Unit, Bologna, Italy., Gili T; Neuropsychiatry Laboratory, IRCCS Santa Lucia Foundation, Rome, Italy.; IMT School for Advanced Studies Lucca, Lucca, Italy., Glauser TA; Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Goldberg E; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA., Goldman A; Department of Neurology, Baylor College of Medicine., Goldstein DB; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY 10032, USA., Granata T; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Grant R; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Greenberg DA; Department of Pediatrics, Nationwide Children's Hospital, Columbia, Ohio, USA., Guerrini R; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Department of NEUROFARBA, University of Florence, Florence, Italy., Gundogdu-Eken A; Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey., Gupta N; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Haas K; Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA., Hakonarson H; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA., Haryanyan G; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Häusler M; Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, University Hospital, RWTH Aachen, Aachen, Germany., Hegde M; Department of Neurology, University of California, San Francisco, CA 94143, USA., Heinzen EL; Division of Pharmacotherapy and Experimental Therapeutics, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA., Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.; Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, 19104 USA.; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany.; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, 19104 USA., Hengsbach C; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany., Heyne H; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Hasso Plattner Institute, Digital Engineering Faculty, University of Potsdam, Germany., Hirose S; General Medical Research Center, School of Medicine, Fukuoka University, Japan., Hirsch E; Department of Neurology, University Hospital of Strasbourg, Strasbourg, France., Ho CJ; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan., Hoeper O; Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg 3084, Australia., Howrigan DP; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Hucks D; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA., Hung PC; Department of Pediatric Neurology, Chang Gung Memorial Hospital, Taoyuan, Taiwan., Iacomino M; IRCCS Istituto Giannina Gaslini, Genova, Italy., Inoue Y; National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorder, Shizuoka, Japan., Inuzuka LM; Epilepsy Clinic, Hospital Sirio-Libanes, Sao Paulo, Brazil.; Department of Neurology, University of Sao Paulo School of Medicine, Brazil., Ishii A; Department of Pediatrics, Fukuoka Sanno Hospital, Japan., Jehi L; Cleveland Clinic Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA.; Department of Neurology, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA., Johnson MR; Division of Brain Sciences, Imperial College London, London SW7 2AZ, UK., Johnstone M; Division of Psychiatry, Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK., Kälviäinen R; Kuopio Epilepsy Center, Neurocenter, Kuopio University Hospital, Kuopio 70210, Finland.; Institute of Clinical Medicine, University of Eastern Finland, Kuopio 70210, Finland., Kanaan M; Hereditary Research Lab, Bethlehem University, Bethlehem, Palestine., Kara B; Department of Child Neurology, Medical School, Kocaeli University, Kocaeli, Turkey., Kariuki SM; Neuroscience Unit, KEMRI-Wellcome Trust Research Programme, Kilifi, Kenya.; Department of Public Health, Pwani University, Kilifi, Kenya.; Department of Psychiatry, University of Oxford, Oxford, UK., Kegele J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany., Kesim Y; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Khoueiry-Zgheib N; Department of Pharmacology and Toxicology, American University of Beirut Faculty of Medicine, Beirut, Lebanon., Khoury J; Cleveland Clinic Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA.; Department of Neurology, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA., King C; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Klein KM; Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Department of Community Health Sciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, Goethe University Frankfurt, Frankfurt, Germany.; LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe University Frankfurt, Germany., Kluger G; Neuropediatric Clinic and Clinic for Neurorehabilitation, Epilepsy Center for Children and Adolescents, Vogtareuth, Germany.; Research Institute Rehabilitation / Transition, / Palliation, PMU Salzburg, Austria., Knake S; LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe University Frankfurt, Germany.; Epilepsy Center Hessen-Marburg, Department of Neurology, Philipps University Marburg, Marburg, Germany., Kok F; Department of Neurology, University of Sao Paulo School of Medicine, Brazil.; Mendelics Genomic Analysis, São Paulo, Brazil., Korczyn AD; Tel-Aviv University Sackler Faculty of Medicine, Ramat Aviv 69978, Israel., Korinthenberg R; Department of Neuropediatrics and Muscular Disorders, University Medical Center, University of Freiburg, Freiburg, Germany., Koupparis A; Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Kousiappa I; Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Krause R; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette L-4362, Luxembourg., Krenn M; Department of Neurology, Medical University of Vienna, Vienna 1090, Austria., Krestel H; Yale School of Medicine, New Haven, CT 06510, USA.; Department of Neurology, Inselspital, Bern University Hospital, University of Bern, Bern 3010, Switzerland., Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Kunz WS; Department of Epileptology, University of Bonn Medical Centre, Bonn 53127, Germany.; Institute of Experimental Epileptology and Cognition Research, Medical Faculty, University of Bonn, Bonn, Germany., Kurlemann G; Bonifatius Hospital Lingen, Neuropediatrics Wilhelmstrasse 13, 49808 Lingen, Germany., Kuzniecky RI; Department of Neurology, Hofstra-Northwell Medical School, New York, NY, USA., Kwan P; Department of Medicine, University of Melbourne, Royal Melbourne Hospital, Parkville 3050, Australia.; Department of Neuroscience, The School of Translational Medicine, Alfred Health, Monash University, Melbourne 3004, Australia.; Department of Medicine and Therapeutics, Chinese University of Hong Kong, Hong Kong, China., La Vega-Talbott M; Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Labate A; Neurophysiopatology and Movement Disorders Clinic, University of Messina, Messina, Italy., Lacey A; School of Pharmacy and Biomolecular Sciences, The Royal College of Surgeons in Ireland, Dublin, Ireland.; The FutureNeuro Research Centre, Dublin, Ireland., Lal D; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA.; Cleveland Clinic Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA., Laššuthová P; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic., Lauxmann S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany., Lawthom C; Neurology Department, Aneurin Bevan University Health Board, Newport, Wales, UK.; Swansea University Medical School, Swansea University, Swansea, Wales, UK., Leech SL; Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg 3084, Australia., Lehesjoki AE; Folkhälsan Research Center, Helsinki 00290, Finland.; Medicum, University of Helsinki, Helsinki 00290, Finland., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany., Lesca G; Department of Medical Genetics, Hospices Civils de Lyon and University of Lyon, Lyon, France., Leu C; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA., Lewin N; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA., Lewis-Smith D; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, 19104 USA.; Translational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne, UK.; Department of Clinical Neurosciences, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK., Li GH; Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hung Hum, Hong Kong., Liao C; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Licchetta L; IRCCS Istituto delle Scienze Neurologiche di Bologna, (Reference Center for Rare and Complex Epilepsies - EpiCARE), Bologna, Italy., Lin CH; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan., Lin KL; Department of Pediatric Neurology, Chang Gung Memorial Hospital, Taoyuan, Taiwan., Linnankivi T; Child Neurology, New Childreńs Hospital, Helsinki, Finland.; Pediatric Research Center, University of Helsinki, Helsinki, Finland.; Helsinki University Hospital, Helsinki, Finland., Lo W; Department of Pediatrics and Neurology, Nationwide Children's Hospital, Columbus, OH, USA., Lowenstein DH; Department of Neurology, University of California, San Francisco, CA 94143, USA., Lowther C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Lubbers L; Citizens United for Research in Epilepsy, Chicago, Illinois, USA., Lui CHT; Department of Medicine, Tseung Kwan O Hospital, Hong Kong., Macedo-Souza LI; Department of Biology, Institute of Biological Sciences and Center for Study on Human Genome, University of São Paulo, São Paulo, Brazil., Madeleyn R; Department of Pediatrics, Filderklinik, Filderstadt, Germany., Madia F; IRCCS Istituto Giannina Gaslini, Genova, Italy., Magri S; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Maillard L; Neurology Department, University Hospital of Nancy, UMR 7039, CNRS, Lorraine University, Nancy, France., Marcuse L; Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Marques P; University Health Network, University of Toronto, Toronto, ON, Canada., Marson AG; Department of Pharmacology and Therapeutics, University of Liverpool, Liverpool L69 3GL, UK., Matthews AG; The Emmes Company, Rockville, MD, USA., May P; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette L-4362, Luxembourg., Mayer T; Epilepsy Center Kleinwachau, Radeberg 01454, Germany., McArdle W; Population Health Sciences, Bristol Medical School, University of Bristol, Bristol BS8 2BN, UK., McCarroll SM; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Genetics, Harvard Medical School, Boston, MA, USA., McGoldrick P; Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Department of Neurology, Boston Children's Health Physicians, Maria Fareri Children's Hospital at Westchester Medical Center, New York Medical College, New York, NY 10595, USA., McGraw CM; Neurology, Massachusetts General Hospital, Boston, MA, USA., McIntosh A; Division of Psychiatry, Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK., McQuillan A; Division of Psychiatry, University College London., Meador KJ; Stanford University, Palo Alto, CA, USA., Mei D; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Michel V; Department of Neurology, Hôpital Pellegrin, Bordeaux, France., Millichap JJ; Neurology, Northwestern University, Chicago, IL USA., Minardi R; IRCCS Istituto delle Scienze Neurologiche di Bologna, (Reference Center for Rare and Complex Epilepsies - EpiCARE), Bologna, Italy., Montomoli M; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Mostacci B; IRCCS Istituto delle Scienze Neurologiche di Bologna, (Reference Center for Rare and Complex Epilepsies - EpiCARE), Bologna, Italy., Muccioli L; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Muhle H; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany., Müller-Schlüter K; Epilepsy Center for Children, University Hospital Ruppin-Brandenburg, Brandenburg Medical School, 16816 Neuruppin, Germany., Najm IM; Cleveland Clinic Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA.; Department of Neurology, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA., Nasreddine W; Department of Neurology, American University of Beirut Medical Center, Beirut, Lebanon., Neaves S; Population Health Sciences, Bristol Medical School, University of Bristol, Bristol BS8 2BN, UK.; MRC Integrative Epidemiology Unit at University of Bristol, Bristol BS8 2BN, UK., Neubauer BA; Pediatric Neurology, University of Giessen, Germany., Newton CRJC; Neuroscience Unit, KEMRI-Wellcome Trust Research Programme, Kilifi, Kenya.; Department of Public Health, Pwani University, Kilifi, Kenya.; Department of Psychiatry, University of Oxford, Oxford, UK.; Department of Psychiatry, University of Cape Town, South Africa., Noebels JL; Department of Neurology, Baylor College of Medicine., Northstone K; Population Health Sciences, Bristol Medical School, University of Bristol, Bristol BS8 2BN, UK., Novod S; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA., O'Brien TJ; Department of Medicine, University of Melbourne, Royal Melbourne Hospital, Parkville 3050, Australia.; Department of Neuroscience, The School of Translational Medicine, Alfred Health, Monash University, Melbourne 3004, Australia., Owusu-Agyei S; Kintampo Health Research Centre, Ghana Health Service, Kintampo, Ghana.; University of Health and Allied Science in Ho, Ghana., Özkara Ç; Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Department of Neurology, Istanbul, Turkey., Palotie A; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.; Neurology, Massachusetts General Hospital, Boston, MA, USA.; Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki 0014, Finland., Papacostas SS; Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Parrini E; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Department of NEUROFARBA, University of Florence, Florence, Italy., Pato C; Departments of Psychiatry, Rutgers University, Robert Wood Johnson Medical School and New Jersey Medical School, New Brunswick, NJ, USA.; Department of Psychiatry and Behavioral Sciences, SUNY Downstate Medical Center, Brooklyn, NY, USA., Pato M; Departments of Psychiatry, Rutgers University, Robert Wood Johnson Medical School and New Jersey Medical School, New Brunswick, NJ, USA.; Department of Psychiatry and Behavioral Sciences, SUNY Downstate Medical Center, Brooklyn, NY, USA., Pendziwiat M; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany.; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany., Pennell PB; University of Pittsburgh, Pittsburgh, PA, USA., Petrovski S; Department of Medicine, University of Melbourne, Royal Melbourne Hospital, Parkville 3050, Australia.; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge CB2 0AA, UK., Pickrell WO; Swansea University Medical School, Swansea University, Swansea, Wales, UK.; Department of Neurology, Morriston Hospital, Swansea Bay University Bay Health Board, Swansea, Wales, UK., Pinsky R; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Pinto D; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Pippucci T; IRCCS Azienda Ospedaliero-Universitaria di Bologna, Medical Genetics Unit, Bologna, Italy., Piras F; Neuropsychiatry Laboratory, IRCCS Santa Lucia Foundation, Rome, Italy., Piras F; Neuropsychiatry Laboratory, IRCCS Santa Lucia Foundation, Rome, Italy., Poduri A; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Pondrelli F; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Posthuma D; Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU Amsterdam, Amsterdam, the Netherlands., Powell RHW; Swansea University Medical School, Swansea University, Swansea, Wales, UK.; Department of Neurology, Morriston Hospital, Swansea Bay University Bay Health Board, Swansea, Wales, UK., Privitera M; Department of Neurology, Gardner Neuroscience Institute, University of Cincinnati Medical Center, Cincinnati, OH 45220, USA., Rademacher A; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany., Ragona F; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Ramirez-Hamouz B; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Rau S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany., Raynes HR; Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Rees MI; Swansea University Medical School, Swansea University, Swansea, Wales, UK.; Brain & Mind Centre, Faculty of Medicine & Health, University of Sydney, Sydney, New South Wales, Australia., Regan BM; Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg 3084, Australia., Reif A; Department of Psychiatry, Psychosomatic Medicine and Psychotherapy, University Hospital Frankfurt.; Department of Psychiatry, Psychotherapy and Psychosomatics, University Hospital Würzburg., Reinthaler E; Department of Neurology, Medical University of Vienna, Vienna 1090, Austria., Rheims S; Department of Functional Neurology and Epileptology, Hospices Civils de Lyon and University of Lyon, France.; Lyon's Neuroscience Research Center, INSERM U1028 / CNRS UMR 5292, Lyon, France., Ring SM; Population Health Sciences, Bristol Medical School, University of Bristol, Bristol BS8 2BN, UK.; MRC Integrative Epidemiology Unit at University of Bristol, Bristol BS8 2BN, UK., Riva A; IRCCS Istituto Giannina Gaslini, Genova, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy., Rojas E; Division of Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL USA., Rosenow F; Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, Goethe University Frankfurt, Frankfurt, Germany.; LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe University Frankfurt, Germany.; Epilepsy Center Hessen-Marburg, Department of Neurology, Philipps University Marburg, Marburg, Germany., Ryvlin P; Department of Clinical Neurosciences, Centre Hospitalo-Universitaire Vaudois, Lausanne, Switzerland., Saarela A; Kuopio Epilepsy Center, Neurocenter, Kuopio University Hospital, Kuopio 70210, Finland.; Institute of Clinical Medicine, University of Eastern Finland, Kuopio 70210, Finland., Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Salman B; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey., Salmon A; Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Salpietro V; IRCCS Istituto Giannina Gaslini, Genova, Italy., Sammarra I; Department of Medical and Surgical Sciences, Neuroscience Research Center, Magna Graecia University, Catanzaro, Italy., Scala M; IRCCS Istituto Giannina Gaslini, Genova, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy., Schachter S; Departments of Neurology, Beth Israel Deaconess Medical Center, Massachusetts General Hospital, and Harvard Medical School, Boston, MA 02215, USA., Schaller A; Institute of Human Genetics, Bern University Hospital, Bern, Switzerland., Schankin CJ; Department of Neurology, Inselspital, Bern University Hospital, University of Bern, Bern 3010, Switzerland.; Department of Neurology, Ludwig Maximilians University, Munich, Germany., Scheffer IE; Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg 3084, Australia.; Florey and Murdoch Children's Research Institutes, Parkville, Victoria 3052, Australia.; Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria 3052, Australia., Schneider N; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Chalfont Centre for Epilepsy, Chalfont-St-Peter, Buckinghamshire SL9 0RJ, UK., Schubert-Bast S; Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, Goethe University Frankfurt, Frankfurt, Germany.; LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe University Frankfurt, Germany.; Department of Neuropediatrics, Children's Hospital, Goethe University Frankfurt, Frankfurt, Germany., Schulze-Bonhage A; Department of Epileptology, University Hospital Freiburg, Freiburg, Germany., Scudieri P; IRCCS Istituto Giannina Gaslini, Genova, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy., Sedláčková L; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic., Shain C; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Sham PC; Department of Psychiatry, The University of Hong Kong, Pokulam, Hong Kong., Shiedley BR; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Siena SA; Medical School, Nova Southeastern University, Fort Lauderdale, FL, USA., Sills GJ; School of Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK., Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Chalfont Centre for Epilepsy, Chalfont-St-Peter, Buckinghamshire SL9 0RJ, UK., Smoller JW; Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Psychiatry, Harvard Medical School, Boston, MA, USA., Solomonson M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA., Spalletta G; Neuropsychiatry Laboratory, IRCCS Santa Lucia Foundation, Rome, Italy.; Division of Neuropsychiatry, Menninger Department of Psychiatry and Behavioral Sciences, Baylor College of Medicine, Houston, TX, USA., Sparks KR; Division of Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL USA., Sperling MR; Department of Neurology and Comprehensive Epilepsy Center, Thomas Jefferson University, Philadelphia, PA 19107, USA., Stamberger H; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Department of Neurology, Antwerp University Hospital, Edegem 2650, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium., Steinhoff BJ; Epilepsy Center Kork, Kehl-Kork 77694, Germany., Stephani U; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany., Štěrbová K; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic., Stewart WC; Department of Pediatrics, Nationwide Children's Hospital, Columbia, Ohio, USA., Stipa C; IRCCS Istituto delle Scienze Neurologiche di Bologna, (Reference Center for Rare and Complex Epilepsies - EpiCARE), Bologna, Italy., Striano P; IRCCS Istituto Giannina Gaslini, Genova, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy., Strzelczyk A; Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, Goethe University Frankfurt, Frankfurt, Germany.; LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe University Frankfurt, Germany.; Epilepsy Center Hessen-Marburg, Department of Neurology, Philipps University Marburg, Marburg, Germany., Surges R; Department of Epileptology, University of Bonn Medical Centre, Bonn 53127, Germany., Suzuki T; Department of Neurodevelopmental Disorder Genetics, Institute of Brain Science, Nagoya City University Graduate School of Medical Science, Nagoya, Aichi, Japan.; Laboratory for Neurogenetics, RIKEN Center for Brain Science, Wako, Saitama, Japan., Talarico M; Department of Medical and Surgical Sciences, Neuroscience Research Center, Magna Graecia University, Catanzaro, Italy., Talkowski ME; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Taneja RS; Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA., Tanteles GA; Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Timonen O; Institute of Clinical Medicine, University of Eastern Finland, Kuopio 70210, Finland., Timpson NJ; Population Health Sciences, Bristol Medical School, University of Bristol, Bristol BS8 2BN, UK.; MRC Integrative Epidemiology Unit at University of Bristol, Bristol BS8 2BN, UK., Tinuper P; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, (Reference Center for Rare and Complex Epilepsies - EpiCARE), Bologna, Italy., Todaro M; Department of Medicine, University of Melbourne, Royal Melbourne Hospital, Parkville 3050, Australia.; Department of Neuroscience, The School of Translational Medicine, Alfred Health, Monash University, Melbourne 3004, Australia., Topaloglu P; Department of Child Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Tsai MH; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan., Tumiene B; Centre for Medical Genetics, Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania.; Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Turkdogan D; Department of Child Neurology, Medical School, Marmara University, Istanbul, Turkey., Uğur-İşeri S; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey., Utkus A; Centre for Medical Genetics, Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania.; Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania., Vaidiswaran P; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, USA., Valton L; Department of Neurology, UMR 5549, CNRS, Toulouse University Hospital, University of Toulouse, Toulouse, France., van Baalen A; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany., Vari MS; IRCCS Istituto Giannina Gaslini, Genova, Italy., Vetro A; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Vlčková M; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic., von Brauchitsch S; Epilepsy Center Frankfurt Rhine-Main, Center of Neurology and Neurosurgery, Goethe University Frankfurt, Frankfurt, Germany.; LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe University Frankfurt, Germany.; Epilepsy Center Hessen-Marburg, Department of Neurology, Philipps University Marburg, Marburg, Germany., von Spiczak S; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany.; DRK-Northern German Epilepsy Centre for Children and Adolescents, 24223 Schwentinental-Raisdorf, Germany., Wagner RG; MRC/Wits Rural Public Health & Health Transitions Research Unit (Agincourt), School of Public Health, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.; Department of Epidemiology and Global Health, Umeå University, Umeå, Sweden.; Department of Clinical Sciences, Neurosciences, Umeå University, Umeå, Sweden., Watts N; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA., Weber YG; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.; Department of Neurology and Epileptology, University of Aachen, Aachen 52074, Germany., Weckhuysen S; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Department of Neurology, Antwerp University Hospital, Edegem 2650, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium., Widdess-Walsh P; School of Pharmacy and Biomolecular Sciences, The Royal College of Surgeons in Ireland, Dublin, Ireland.; The FutureNeuro Research Centre, Dublin, Ireland.; Department of Neurology, Beaumont Hospital, Dublin D09 FT51, Ireland., Wiebe S; Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Department of Community Health Sciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; O'Brien Institute for Public Health, University of Calgary, Calgary, Alberta, Canada.; Clinical Research Unit, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Wolf SM; Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Department of Neurology, Boston Children's Health Physicians, Maria Fareri Children's Hospital at Westchester Medical Center, New York Medical College, New York, NY 10595, USA., Wolff M; Department of Pediatric Neurology, Vivantes Hospital Neukölln, 12351 Berlin, Germany., Wolking S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.; Department of Neurology and Epileptology, University of Aachen, Aachen 52074, Germany., Wong I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., von Wrede R; Department of Epileptology, University of Bonn Medical Centre, Bonn 53127, Germany., Wu D; Human Genetics Training Program, Vanderbilt University, Nashville, TN, USA., Yamakawa K; Department of Neurodevelopmental Disorder Genetics, Institute of Brain Science, Nagoya City University Graduate School of Medical Science, Nagoya, Aichi, Japan.; Laboratory for Neurogenetics, RIKEN Center for Brain Science, Wako, Saitama, Japan., Yapıcı Z; Department of Child Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Yis U; Department of Child Neurology, Medical School, Dokuz Eylul University, Izmir, Turkey., Yolken R; Stanley Division of Developmental Neurovirology, Johns Hopkins University, Baltimore, Maryland, USA., Yücesan E; Bezmialem Vakif University, Institute of Life Sciences and Biotechnology, Istanbul, Turkey., Zagaglia S; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Chalfont Centre for Epilepsy, Chalfont-St-Peter, Buckinghamshire SL9 0RJ, UK., Zahnert F; LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe University Frankfurt, Germany.; Epilepsy Center Hessen-Marburg, Department of Neurology, Philipps University Marburg, Marburg, Germany., Zara F; IRCCS Istituto Giannina Gaslini, Genova, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy., Zimprich F; Department of Neurology, Medical University of Vienna, Vienna 1090, Austria., Zizovic M; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette L-4362, Luxembourg., Zsurka G; Department of Epileptology, University of Bonn Medical Centre, Bonn 53127, Germany.; Institute of Experimental Epileptology and Cognition Research, Medical Faculty, University of Bonn, Bonn, Germany., Neale BM; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA., Berkovic SF; Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg 3084, Australia.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Sep 20. Date of Electronic Publication: 2024 Sep 20.

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.

Autor: LaFlamme CW; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Graduate School of Biomedical Sciences, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Rastin C; Department of Pathology & Laboratory Medicine, Western University, London, ON, N5A 3K7, Canada.; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, N6A 5W9, Canada., Sengupta S; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Pennington HE; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Department of Mathematics & Statistics, Rhodes College, Memphis, TN, 38112, USA., Russ-Hall SJ; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia., Schneider AL; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia., Bonkowski ES; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Almanza Fuerte EP; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Allan TJ; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia., Zalusky MP; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, 98195, USA., Goffena J; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, 98195, USA., Gibson SB; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, 98195, USA.; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA., Nyaga DM; Department of Paediatrics and Child Health, University of Otago, Wellington, 6242, New Zealand., Lieffering N; Department of Paediatrics and Child Health, University of Otago, Wellington, 6242, New Zealand., Hebbar M; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, 98195, USA., Walker EV; Hartwell Center for Bioinformatics and Biotechnology, St. Jude Children's Research Hospital Memphis, Memphis, TN, 38105, USA., Darnell D; Hartwell Center for Bioinformatics and Biotechnology, St. Jude Children's Research Hospital Memphis, Memphis, TN, 38105, USA., Olsen SR; Hartwell Center for Bioinformatics and Biotechnology, St. Jude Children's Research Hospital Memphis, Memphis, TN, 38105, USA., Kolekar P; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Djekidel MN; Center for Applied Bioinformatics, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Rosikiewicz W; Center for Applied Bioinformatics, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., McConkey H; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, N6A 5W9, Canada., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, N6A 5W9, Canada., Levy MA; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, N6A 5W9, Canada., Relator R; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, N6A 5W9, Canada., Lev D; Institute of Medical Genetics, Wolfson Medical Center, Holon, 58100, Israel., Lerman-Sagie T; Fetal Neurology Clinic, Pediatric Neurology Unit, Wolfson Medical Center, Holon, 58100, Israel.; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Park KL; Departments of Pediatrics and Neurology, University of Colorado School of Medicine, Aurora, CO, 80045, USA., Alders M; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, Meibergdreef 9, Amsterdam, Netherlands., Cappuccio G; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Department of Translational Medicine, Federico II University of Naples, Naples, Italy., Chatron N; Department of Medical Genetics, Member of the ERN EpiCARE, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM, U1315, Lyon, France., Demain L; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Genevieve D; Montpellier University, Inserm Unit 1183, Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndrome, Clinical Genetic Department, CHU Montpellier, Montpellier, France., Lesca G; Department of Medical Genetics, Member of the ERN EpiCARE, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM, U1315, Lyon, France., Roscioli T; Neuroscience Research Australia (NeuRA), Sydney, NSW, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Sanlaville D; Department of Medical Genetics, Member of the ERN EpiCARE, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM, U1315, Lyon, France., Tedder ML; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Gupta S; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW, Australia., Jones EA; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Weisz-Hubshman M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Genetic Department, Houston, TX, 77030, USA., Ketkar S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Worley KC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Chao HT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA.; Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Department of Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA.; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX, 77030, USA., Neale G; Hartwell Center for Bioinformatics and Biotechnology, St. Jude Children's Research Hospital Memphis, Memphis, TN, 38105, USA., Carvill GL; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Wang Z; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA., Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia., Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington, 6242, New Zealand., Miller DE; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, 98195, USA.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, 98195, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, 98195, USA., Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC, Australia.; Florey Institute and Murdoch Children's Research Institute, Melbourne, VIC, Australia., Sadikovic B; Department of Pathology & Laboratory Medicine, Western University, London, ON, N5A 3K7, Canada. Bekim.Sadikovic@lhsc.on.ca.; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, N6A 5W9, Canada. Bekim.Sadikovic@lhsc.on.ca., Mefford HC; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA. Heather.Mefford@stjude.org.

Publikováno v: Nature communications [Nat Commun] 2024 Aug 06; Vol. 15 (1), pp. 6524. Date of Electronic Publication: 2024 Aug 06.

Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report.

Autor: Nyaga DM; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Hildebrand MS; Department of Medicine (Austin Health), University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia., de Valles-Ibáñez G; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Keenan NF; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Ye Z; Department of Medicine (Austin Health), University of Melbourne, Melbourne, Victoria, Australia., LaFlamme CW; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Bennett MF; Department of Medicine (Austin Health), University of Melbourne, Melbourne, Victoria, Australia.; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia., Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia., Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.

Publikováno v: Epilepsia open [Epilepsia Open] 2024 Apr; Vol. 9 (2), pp. 758-764. Date of Electronic Publication: 2024 Jan 05.

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.

Autor: LaFlamme CW, Rastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL, Bonkowski ES, Almanza Fuerte EP, Galey M, Goffena J, Gibson SB, Allan TJ, Nyaga DM, Lieffering N, Hebbar M, Walker EV, Darnell D, Olsen SR, Kolekar P, Djekidel N, Rosikiewicz W, McConkey H, Kerkhof J, Levy MA, Relator R, Lev D, Lerman-Sagie T, Park KL, Alders M, Cappuccio G, Chatron N, Demain L, Genevieve D, Lesca G, Roscioli T, Sanlaville D, Tedder ML, Hubshman MW, Ketkar S, Dai H, Worley KC, Rosenfeld JA, Chao HT, Neale G, Carvill GL, Wang Z, Berkovic SF, Sadleir LG, Miller DE, Scheffer IE, Sadikovic B, Mefford HC

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Oct 12. Date of Electronic Publication: 2023 Oct 12.