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

Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).

Autor: Viswanathan S; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.; Department of Paediatrics, Hospital Pulau Pinang, George Town, Malaysia., Oliver KL; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.; Population Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.; Department of Medical Biology, the University of Melbourne, Melbourne, Australia., Regan BM; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia., Schneider AL; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia., Myers CT; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA., Mehaffey MG; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA.; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA., LaCroix AJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA., Antony J; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australia., Webster R; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australia., Cardamone M; Department of Paediatric Neurology, Sydney Children's Hospital, Randwick; School of Clinical Medicine, UNSW Sydney, Sydney, Australia., Subramanian GM; Department of Paediatric Neurology, John Hunter Children's Hospital, New Lambton Heights, Australia., Chiu ATG; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia., Roza E; Faculty of Medicine, Clinical Neurosciences Department, Paediatric Neurology, Carol Davila University of Medicine and Pharmacy, București, Romania.; Pediatric Neurology Department, Dr. Victor Gomoiu Children's Hospital, București, Romania., Teleanu RI; Faculty of Medicine, Clinical Neurosciences Department, Paediatric Neurology, Carol Davila University of Medicine and Pharmacy, București, Romania.; Pediatric Neurology Department, Dr. Victor Gomoiu Children's Hospital, București, Romania., Malone S; Centre for Advanced Imaging, University of Queensland, St Lucia, Australia.; Neurosciences Department, Queensland Children's Hospital, South Brisbane, Australia., Leventer RJ; Department of Neurology, Royal Children's Hospital, University of Melbourne, Melbourne, Australia.; Neuroscience Research Group, Murdoch Children's Research Institute, Melbourne, Australia., Gill D; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australia.; Kids Neuroscience Centre, Kids Research Institute, Sydney, Australia., Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia., Hildebrand MS; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.; Neuroscience Research Group, Murdoch Children's Research Institute, Melbourne, Australia., Goad BS; Department of Neurology, Royal Children's Hospital, University of Melbourne, Melbourne, Australia.; Neuroscience Research Group, Murdoch Children's Research Institute, Melbourne, Australia., Howell KB; Department of Neurology, Royal Children's Hospital, University of Melbourne, Melbourne, Australia.; Neuroscience Research Group, Murdoch Children's Research Institute, Melbourne, Australia., Symonds JD; School of Health and Wellbeing, University of Glasgow, Glasgow, UK.; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK., Brunklaus A; School of Health and Wellbeing, University of Glasgow, Glasgow, UK.; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK., Sadleir LG; Department of Paediatrics and Child Health, University of Otago Wellington, Wellington, New Zealand., Zuberi SM; School of Health and Wellbeing, University of Glasgow, Glasgow, UK.; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK., Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.; Centre for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.; Department of Neurology, Royal Children's Hospital, University of Melbourne, Melbourne, Australia.; Neuroscience Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; The Florey Institute of Neurosciences and Mental Health, Melbourne, Australia.

Publikováno v: Annals of neurology [Ann Neurol] 2024 Nov; Vol. 96 (5), pp. 932-943. Date of Electronic Publication: 2024 Aug 02.

Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.

Autor: Saettini F; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy. f.saettini@gmail.com., Guerra F; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Pediatria, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy.; Molecular Systems Biology, School of Biosciences, Faculty of Health and Medical Sciences, University of Surrey, Guildford, Surrey, United Kingdom., Mauri M; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Salter CG; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK.; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK., Adam MP; Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Adams D; NIH Undiagnosed Diseases Program, NIH, Bethesda, MD, USA., Baple EL; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK.; Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital, Exeter, UK., Barredo E; Neuropediatric Department, Hospital Universitario Gregorio Marañón, Madrid, Spain., Bhatia S; Department of Paediatric Oncology, Haematology and Clinical Immunology, Medical Faculty, Heinrich-Heine University Dusseldorf, Düsseldorf, Germany., Borkhardt A; Department of Paediatric Oncology, Haematology and Clinical Immunology, Medical Faculty, Heinrich-Heine University Dusseldorf, Düsseldorf, Germany., Brusco A; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy., Bugarin C; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy., Chinello C; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Crosby AH; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK., D'Souza P; NIH Undiagnosed Diseases Program, NIH, Bethesda, MD, USA., Denti V; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Fazio G; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy., Giuliani S; Pediatria, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Kuehn HS; Immunology Service, DLM, NIH Clinical Center, Bethesda, MD, USA., Amel H; Pediatric Allergy and Immunology Department, Sidra Medicine, Doha, Qatar., Elmi A; Research Branch, Sidra Medicine, Doha, Qatar., Lo B; Research Branch, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Malighetti F; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Mandrile G; Department of Medical Sciences, University of Turin, Turin, Italy., Martín-Nalda A; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron, Institut de Recerca Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain., Mefford HC; Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Moratto D; Flow Cytometry Laboratory, Diagnostic Department, ASST Spedali Civili di Brescia, Brescia, Italy., Emam Mousavi F; Molecular Systems Biology, School of Biosciences, Faculty of Health and Medical Sciences, University of Surrey, Guildford, Surrey, United Kingdom.; Centre for Mathematical and Computational Biology, CMCB, University of Surrey, Guildford, Surrey, United Kingdom., Nelson Z; Vascular Anomalies Program, Seattle Children's Hospital, Seattle, WA, USA., Gutiérrez-Solana LG; Hospital Infantil Niño Jesús, Madrid, Madrid, Spain., Macnamara E; NIH Undiagnosed Diseases Program, NIH, Bethesda, MD, USA., Michaud V; Molecular Genetics Laboratory, Bordeaux University Hospital, Bordeaux, Aquitaine, France. INSERM U1211, Rare Diseases Laboratory: Genetics and Metabolism, University of Bordeaux, Aquitaine, Talence, France., O'Leary M; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Pagani L; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Pavinato L; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Santamaria PV; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain., Planas-Serra L; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.; Centre for Biomedical Research in Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Quadri M; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy., Raspall-Chaure M; Department of Paediatric Neurology, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Rebellato S; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Rosenzweig SD; Immunology Service, DLM, NIH Clinical Center, Bethesda, MD, USA., Roubertie A; Département de Neuropédiatrie, CIC, CHU de Montpellier, INM, Univ Montpellier, INSERM U 1298, Montpellier, France., Holzinger D; Department of Pediatric Haematology-Oncology, Pediatrics III, University of Duisburg-Essen, Essen, Germany.; Department of Applied Health Sciences, University of Applied Sciences Bochum, Bochum, Germany., Deal C; Division of Pediatric Allergy and Immunology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, USA., Vockley CW; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, USA., Savino AM; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., L Stoddard J; Immunology Service, DLM, NIH Clinical Center, Bethesda, MD, USA., Uhlig HH; Translational Gastroenterology Unit, NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, University of Oxford, Oxfordshire, UK.; Department of Paediatrics, University of Oxford, Oxfordshire, UK.; Oxford NIHR Biomedical Research Centre, Oxford, UK., Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.; Centre for Biomedical Research in Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Catalonia, Spain., Magni F; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Paglia G; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Cazzaniga G; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Piazza R; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy., Barberis M; Molecular Systems Biology, School of Biosciences, Faculty of Health and Medical Sciences, University of Surrey, Guildford, Surrey, United Kingdom.; Centre for Mathematical and Computational Biology, CMCB, University of Surrey, Guildford, Surrey, United Kingdom., Biondi A; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Pediatria, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy.

Publikováno v: Journal of clinical immunology [J Clin Immunol] 2024 Sep 23; Vol. 45 (1), pp. 15. Date of Electronic Publication: 2024 Sep 23.

Developmental and epileptic encephalopathies.

Autor: Scheffer IE; Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia. scheffer@unimelb.edu.au.; Florey and Murdoch Children's Research Institutes, Melbourne, Victoria, Australia. scheffer@unimelb.edu.au.; Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia. scheffer@unimelb.edu.au., Zuberi S; Paediatric Neurosciences Research Group, School of Health & Wellbeing, University of Glasgow, Glasgow, UK.; Paediatric Neurosciences, Royal Hospital for Children, Glasgow, UK., Mefford HC; Center for Paediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA., Guerrini R; Neuroscience Department, Children's Hospital Meyer IRCCS, Florence, Italy.; University of Florence, Florence, Italy., McTague A; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.

Publikováno v: Nature reviews. Disease primers [Nat Rev Dis Primers] 2024 Sep 05; Vol. 10 (1), pp. 61. Date of Electronic Publication: 2024 Sep 05.

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.