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

CHD2 variants are a risk factor for photosensitivity in epilepsy.

Autor: Galizia EC; 1 NIHR Biomedical Research Centre Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK 2 Epilepsy Society, Bucks, UK s.sisodiya@ucl.ac.uk scheffer@unimelb.edu.au hmefford@uw.edu b.p.c.koeleman@umcutrecht.nl., Myers CT; 3 Department of Paediatrics, University of Washington, USA., Leu C; 1 NIHR Biomedical Research Centre Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK 2 Epilepsy Society, Bucks, UK., de Kovel CG; 4 Department of Medical Genetics Research, University Medical Centre Utrecht, The Netherlands., Afrikanova T; 5 Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg., Cordero-Maldonado ML; 5 Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg., Martins TG; 5 Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg., Jacmin M; 5 Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg., Drury S; 6 North East Thames Regional Genetics Laboratories, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Krishna Chinthapalli V; 1 NIHR Biomedical Research Centre Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK 2 Epilepsy Society, Bucks, UK., Muhle H; 7 Department of Neuropaediatrics, University Medical Centre Schleswig-Holstein and Christian-Albrechts-University of Kiel, Kiel, Germany., Pendziwiat M; 7 Department of Neuropaediatrics, University Medical Centre Schleswig-Holstein and Christian-Albrechts-University of Kiel, Kiel, Germany., Sander T; 8 Cologne Centre for Genomics, University of Cologne, Cologne, Germany., Ruppert AK; 8 Cologne Centre for Genomics, University of Cologne, Cologne, Germany., Møller RS; 9 Danish Epilepsy Centre, Dianalund, Denmark 10 Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark., Thiele H; 8 Cologne Centre for Genomics, University of Cologne, Cologne, Germany., Krause R; 5 Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg., Schubert J; 11 Deptartment of Neurology and Epileptology, Hertie Institut for Clinical Brain Research, Tübingen, Germany., Lehesjoki AE; 12 Folkhälsan Institute of Genetics and Neuroscience Centre, University of Helsinki, Helsinki, Finland 13 Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland., Nürnberg P; 8 Cologne Centre for Genomics, University of Cologne, Cologne, Germany., Lerche H; 11 Deptartment of Neurology and Epileptology, Hertie Institut for Clinical Brain Research, Tübingen, Germany., Palotie A; 14 Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, UK 15 Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland 16 Program in Medical and Population Genetics and Genetic Analysis Platform, The Broad Institute of MIT and Harvard, Cambridge, USA., Coppola A; 1 NIHR Biomedical Research Centre Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK 2 Epilepsy Society, Bucks, UK 17 Epilepsy Centre, Neurology Department, Federico II University of Naples, Naples, Italy., Striano S; 17 Epilepsy Centre, Neurology Department, Federico II University of Naples, Naples, Italy., Gaudio LD; 17 Epilepsy Centre, Neurology Department, Federico II University of Naples, Naples, Italy., Boustred C; 6 North East Thames Regional Genetics Laboratories, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Schneider AL; 18 Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia., Lench N; 6 North East Thames Regional Genetics Laboratories, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Jocic-Jakubi B; 19 Department of Child Neurology, Paediatric Clinic, Clinical Centre Nis, Serbia 20 Department of Paediatric Neurology, Paediatric Clinic, Al Sabah Hospital, Kuwait., Covanis A; 21 Neurology Department, The Children's Hospital Agia Sophia, Athens, Greece., Capovilla G; 22 Epilepsy Centre 'C. Poma Hospital', Mantova, Italy., Veggiotti P; 23 Department of Child Neurology and Psychiatry C. Mondino National Neurological Institute, Via Mondino, 2, 27100, Pavia, Italy 24 Brain and Behaviour Department, University of Pavia, Pavia, Italy., Piccioli M; 25 Neurophysiopathology Unit, San Filippo Neri Hospital, Rome, Italy., Parisi P; 26 Child Neurology, NESMOS Department, Faculty of Medicine and Psychology, Sapienza University, Rome, Italy., Cantonetti L; 27 Neurorehabilitation Unit, Department of Neuroscience and Neurorehabilitation, IRCCS, Bambino Gesu' Children's Hospital, Rome, Italy., Sadleir LG; 28 Department of Paediatrics and Child Health, School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand., Mullen SA; 29 Florey Institute of Neurosciences and Mental Health, and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia., Berkovic SF; 18 Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia., Stephani U; 7 Department of Neuropaediatrics, University Medical Centre Schleswig-Holstein and Christian-Albrechts-University of Kiel, Kiel, Germany., Helbig I; 7 Department of Neuropaediatrics, University Medical Centre Schleswig-Holstein and Christian-Albrechts-University of Kiel, Kiel, Germany., Crawford AD; 5 Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg., Esguerra CV; 30 Chemical Neuroscience Group, Biotechnology Centre of Oslo, University of Oslo, Oslo, Norway 31 Laboratory for Molecular Biodiscovery, University of Leuven, Leuven, Belgium., Kasteleijn-Nolst Trenité DG; 4 Department of Medical Genetics Research, University Medical Centre Utrecht, The Netherlands., Koeleman BP; 4 Department of Medical Genetics Research, University Medical Centre Utrecht, The Netherlands s.sisodiya@ucl.ac.uk scheffer@unimelb.edu.au hmefford@uw.edu b.p.c.koeleman@umcutrecht.nl., Mefford HC; 3 Department of Paediatrics, University of Washington, USA s.sisodiya@ucl.ac.uk scheffer@unimelb.edu.au hmefford@uw.edu b.p.c.koeleman@umcutrecht.nl., Scheffer IE; 18 Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia 29 Florey Institute of Neurosciences and Mental Health, and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia s.sisodiya@ucl.ac.uk scheffer@unimelb.edu.au hmefford@uw.edu b.p.c.koeleman@umcutrecht.nl., Sisodiya SM; 1 NIHR Biomedical Research Centre Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK 2 Epilepsy Society, Bucks, UK s.sisodiya@ucl.ac.uk scheffer@unimelb.edu.au hmefford@uw.edu b.p.c.koeleman@umcutrecht.nl.

Publikováno v: Brain : a journal of neurology [Brain] 2015 May; Vol. 138 (Pt 5), pp. 1198-207. Date of Electronic Publication: 2015 Mar 17.