RAB32 mutation in Parkinson's disease.

Autor: Monfrini E; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy., Minardi R; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Valzania F; Neurology Unit, Neuromotor and Rehabilitation Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Calandra-Buonaura G; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy; Department of Biomedical and NeuroMotor Sciences (DiBiNeM), Alma Mater Studiorum, University of Bologna, Bologna, Italy., Mandich P; IRCCS Ospedale Policlinico San Martino, UOC Genetica Medica, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal, and Child Health, University of Genoa, Genoa, Italy., Di Fonzo A; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.

Publikováno v: The Lancet. Neurology [Lancet Neurol] 2024 Oct; Vol. 23 (10), pp. 961-962.

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.

Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep.

Autor: Licchetta L; IRCCS Istituto delle Scienze Neurologiche di Bologna, Full member of the European Reference Network EpiCARE Bologna, Bologna, Italy., Di Giorgi L; IRCCS Istituto delle Scienze Neurologiche di Bologna, Full member of the European Reference Network EpiCARE Bologna, Bologna, Italy.; Department of Biomedicine, Neuroscience and Advanced Diagnostics, University of Palermo, Palermo, Italy., Santucci M; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Taruffi L; IRCCS Istituto delle Scienze Neurologiche di Bologna, Full member of the European Reference Network EpiCARE Bologna, Bologna, Italy., Stipa C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Full member of the European Reference Network EpiCARE Bologna, Bologna, Italy., Minardi R; IRCCS Istituto delle Scienze Neurologiche di Bologna, Full member of the European Reference Network EpiCARE Bologna, Bologna, Italy., Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Full member of the European Reference Network EpiCARE Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Bisulli F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Full member of the European Reference Network EpiCARE Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2311. Date of Electronic Publication: 2023 Dec 13.

Tuberous sclerosis complex in adulthood: focus on epilepsy prognosis.

Autor: Licchetta L; IRCCS Istituto delle Scienze Neurologiche di Bologna, European Reference Network for Rare and Complex Epilepsies (EpiCARE), Bologna, Italy., Bruschi G; IRCCS Istituto delle Scienze Neurologiche di Bologna, European Reference Network for Rare and Complex Epilepsies (EpiCARE), Bologna, Italy; Unit of Neurology and Unit of Clinical Neurophysiology, Department of Neuroscience, University of Padua, Padua, Italy., Stipa C; IRCCS Istituto delle Scienze Neurologiche di Bologna, European Reference Network for Rare and Complex Epilepsies (EpiCARE), Bologna, Italy., Belotti LMB; IRCCS Istituto delle Scienze Neurologiche di Bologna, European Reference Network for Rare and Complex Epilepsies (EpiCARE), Bologna, Italy., Ferri L; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna Italy. Electronic address: lorenzo.ferri13@unibo.it., Mostacci B; IRCCS Istituto delle Scienze Neurologiche di Bologna, European Reference Network for Rare and Complex Epilepsies (EpiCARE), Bologna, Italy., Vignatelli L; IRCCS Istituto delle Scienze Neurologiche di Bologna, European Reference Network for Rare and Complex Epilepsies (EpiCARE), Bologna, Italy., Minardi R; IRCCS Istituto delle Scienze Neurologiche di Bologna, European Reference Network for Rare and Complex Epilepsies (EpiCARE), Bologna, Italy., Di Vito L; IRCCS Istituto delle Scienze Neurologiche di Bologna, European Reference Network for Rare and Complex Epilepsies (EpiCARE), Bologna, Italy., Muccioli L; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna Italy., Boni A; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria Dell'età Pediatrica, via Altura 3, Bologna 40138, Italy., Tinuper P; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna Italy., Bisulli F; IRCCS Istituto delle Scienze Neurologiche di Bologna, European Reference Network for Rare and Complex Epilepsies (EpiCARE), Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna Italy.

Publikováno v: Epilepsy & behavior : E&B [Epilepsy Behav] 2024 Apr; Vol. 153, pp. 109688. Date of Electronic Publication: 2024 Feb 29.

A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19.

Autor: Parmeggiani G; Dipartimento MeLabeT, AUSL della Romagna, Pievesestina di Cesena, Cesena, Italy., Minardi R; Department of Biomedical and Neuromotor Sciences, IRCCS Istituto delle Scienze Neurologiche di Bologna, University of Bologna, Bologna, Italy., Boni A; Department of Biomedical and Neuromotor Sciences, IRCCS Istituto delle Scienze Neurologiche di Bologna, University of Bologna, Bologna, Italy., Pruccoli J; Department of Biomedical and Neuromotor Sciences, IRCCS Istituto delle Scienze Neurologiche di Bologna, University of Bologna, Bologna, Italy., Pini A; Department of Biomedical and Neuromotor Sciences, IRCCS Istituto delle Scienze Neurologiche di Bologna, University of Bologna, Bologna, Italy., Licchetta L; Department of Biomedical and Neuromotor Sciences, IRCCS Istituto delle Scienze Neurologiche di Bologna, University of Bologna, Bologna, Italy., Bisulli F; Department of Biomedical and Neuromotor Sciences, IRCCS Istituto delle Scienze Neurologiche di Bologna, University of Bologna, Bologna, Italy., Graziano C; Dipartimento MeLabeT, AUSL della Romagna, Pievesestina di Cesena, Cesena, Italy., Seri M; Dipartimento di Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, University of Bologna, Bologna, Italy.

Publikováno v: Molecular syndromology [Mol Syndromol] 2024 Mar; Vol. 15 (2), pp. 114-118. Date of Electronic Publication: 2023 Dec 06.