Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/12691
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dc.contributor.authorGalizia, Elizabeth Cen
dc.contributor.authorMyers, Candace Ten
dc.contributor.authorLeu, Costinen
dc.contributor.authorde Kovel, Carolien G Fen
dc.contributor.authorAfrikanova, Tatianaen
dc.contributor.authorCordero-Maldonado, Maria Lorenaen
dc.contributor.authorMartins, Teresa Gen
dc.contributor.authorJacmin, Maximeen
dc.contributor.authorDrury, Suzanneen
dc.contributor.authorKrishna Chinthapalli, Ven
dc.contributor.authorMuhle, Hiltruden
dc.contributor.authorPendziwiat, Manuelaen
dc.contributor.authorSander, Thomasen
dc.contributor.authorRuppert, Ann-Kathrinen
dc.contributor.authorMøller, Rikke Sen
dc.contributor.authorThiele, Holgeren
dc.contributor.authorKrause, Rolanden
dc.contributor.authorSchubert, Julianen
dc.contributor.authorLehesjoki, Anna-Elinaen
dc.contributor.authorNürnberg, Peteren
dc.contributor.authorLerche, Holgeren
dc.contributor.authorPalotie, Aarnoen
dc.contributor.authorCoppola, Antoniettaen
dc.contributor.authorStriano, Salvatoreen
dc.contributor.authorGaudio, Luigi Delen
dc.contributor.authorBoustred, Christopheren
dc.contributor.authorSchneider, Amy Len
dc.contributor.authorLench, Nicholasen
dc.contributor.authorJocic-Jakubi, Bosankaen
dc.contributor.authorCovanis, Athanasiosen
dc.contributor.authorCapovilla, Giuseppeen
dc.contributor.authorVeggiotti, Pierangeloen
dc.contributor.authorPiccioli, Martaen
dc.contributor.authorParisi, Pasqualeen
dc.contributor.authorCantonetti, Lauraen
dc.contributor.authorSadleir, Lynette Gen
dc.contributor.authorMullen, Saul Aen
dc.contributor.authorBerkovic, Samuel Fen
dc.contributor.authorStephani, Ulrichen
dc.contributor.authorHelbig, Ingoen
dc.contributor.authorCrawford, Alexander Den
dc.contributor.authorEsguerra, Camila Ven
dc.contributor.authorKasteleijn-Nolst Trenité, Dorothee G Aen
dc.contributor.authorKoeleman, Bobby P Cen
dc.contributor.authorMefford, Heather Cen
dc.contributor.authorScheffer, Ingrid Een
dc.contributor.authorSisodiya, Sanjay Men
dc.date.accessioned2015-05-16T02:25:12Z-
dc.date.available2015-05-16T02:25:12Z-
dc.date.issued2015-03-17en
dc.identifier.citationBrain : A Journal of Neurology 2015; 138(Pt 5): 1198-207en
dc.identifier.govdoc25783594en
dc.identifier.otherPUBMEDen
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/12691en
dc.description.abstractPhotosensitivity 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 CHD2 mutations, but is also seen in epileptic encephalopathies due to other gene mutations. We determined whether CHD2 variation underlies photosensitivity in common epilepsies, specific photosensitive epilepsies and individuals with photosensitivity without seizures. We studied 580 individuals with epilepsy and either photosensitive seizures or abnormal photoparoxysmal response on electroencephalography, or both, and 55 individuals with photoparoxysmal response but no seizures. We compared CHD2 sequence data to publicly available data from 34 427 individuals, not enriched for epilepsy. We investigated the role of unique variants seen only once in the entire data set. We sought CHD2 variants in 238 exomes from familial genetic generalized epilepsies, and in other public exome data sets. We identified 11 unique variants in the 580 individuals with photosensitive epilepsies and 128 unique variants in the 34 427 controls: unique CHD2 variation is over-represented in cases overall (P = 2·17 × 10(-5)). Among epilepsy syndromes, there was over-representation of unique CHD2 variants (3/36 cases) in the archetypal photosensitive epilepsy syndrome, eyelid myoclonia with absences (P = 3·50 × 10(-4)). CHD2 variation was not over-represented in photoparoxysmal response without seizures. Zebrafish larvae with chd2 knockdown were tested for photosensitivity. Chd2 knockdown markedly enhanced mild innate zebrafish larval photosensitivity. CHD2 mutation is the first identified cause of the archetypal generalized photosensitive epilepsy syndrome, eyelid myoclonia with absences. Unique CHD2 variants are also associated with photosensitivity in common epilepsies. CHD2 does not encode an ion channel, opening new avenues for research into human cortical excitability.en
dc.language.isoenen
dc.subject.othereyelid myoclonia with absencesen
dc.subject.otherphotosensitiveen
dc.subject.otherseizureen
dc.titleCHD2 variants are a risk factor for photosensitivity in epilepsy.en
dc.typeJournal Articleen
dc.identifier.journaltitleBrainen
dc.identifier.affiliationDepartment of Paediatrics, University of Washington, USAen
dc.identifier.affiliationNIHR Biomedical Research Centre Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UKen
dc.identifier.affiliationNorth East Thames Regional Genetics Laboratories, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UKen
dc.identifier.affiliationNIHR 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, UKen
dc.identifier.affiliationDepartment of Medical Genetics Research, University Medical Centre Utrecht, The Netherlands.en
dc.identifier.affiliationLuxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.en
dc.identifier.affiliationDepartment of Neuropaediatrics, University Medical Centre Schleswig-Holstein and Christian-Albrechts-University of Kiel, Kiel, Germany.en
dc.identifier.affiliationCologne Centre for Genomics, University of Cologne, Cologne, Germany.en
dc.identifier.affiliationDanish Epilepsy Centre, Dianalund, Denmark 10 Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.en
dc.identifier.affiliationDepartment of Neurology and Epileptology, Hertie Institut for Clinical Brain Research, Tübingen, Germany.en
dc.identifier.affiliationFolkhälsan Institute of Genetics and Neuroscience Centre, University of Helsinki, Helsinki, Finlanden
dc.identifier.affiliationResearch Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finlanden
dc.identifier.affiliationWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, UKen
dc.identifier.affiliationInstitute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finlanden
dc.identifier.affiliationProgram in Medical and Population Genetics and Genetic Analysis Platform, The Broad Institute of MIT and Harvard, Cambridge, USAen
dc.identifier.affiliationEpilepsy Centre, Neurology Department, Federico II University of Naples, Naples, Italyen
dc.identifier.affiliationDepartment of Child Neurology, Paediatric Clinic, Clinical Centre Nis, Serbiaen
dc.identifier.affiliationDepartment of Paediatric Neurology, Paediatric Clinic, Al Sabah Hospital, Kuwaiten
dc.identifier.affiliationNeurology Department, The Children's Hospital Agia Sophia, Athens, Greeceen
dc.identifier.affiliationEpilepsy Centre 'C. Poma Hospital', Mantova, Italyen
dc.identifier.affiliationDepartment of Child Neurology and Psychiatry C. Mondino National Neurological Institute, Via Mondino, 2, 27100, Pavia, Italyen
dc.identifier.affiliationBrain and Behaviour Department, University of Pavia, Pavia, Italyen
dc.identifier.affiliationNeurophysiopathology Unit, San Filippo Neri Hospital, Rome, Italyen
dc.identifier.affiliationChild Neurology, NESMOS Department, Faculty of Medicine and Psychology, Sapienza University, Rome, Italyen
dc.identifier.affiliationNeurorehabilitation Unit, Department of Neuroscience and Neurorehabilitation, IRCCS, Bambino Gesu' Children's Hospital, Rome, Italyen
dc.identifier.affiliationDepartment of Paediatrics and Child Health, School of Medicine and Health Sciences, University of Otago, Wellington, New Zealanden
dc.identifier.affiliationFlorey Institute of Neurosciences and Mental Health, and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australiaen
dc.identifier.affiliationDepartment of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australiaen
dc.identifier.affiliationEpilepsy Society, Bucks, UK-
dc.identifier.affiliationChemical Neuroscience Group, Biotechnology Centre of Oslo, University of Oslo, Oslo, Norway-
dc.identifier.affiliationLaboratory for Molecular Biodiscovery, University of Leuven, Leuven, Belgium-
dc.identifier.affiliationDepartment of Medical Genetics Research, University Medical Centre Utrecht, The Netherlands-
dc.identifier.doi10.1093/brain/awv052en
dc.description.pages1198-207en
dc.contributor.corpauthorEuroEPINOMICS CoGIE Consortiumen
dc.identifier.pubmedid25783594-
dc.type.austinJournal Articleen
local.name.researcherBerkovic, Samuel F
item.openairetypeJournal Article-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.grantfulltextopen-
item.fulltextWith Fulltext-
item.cerifentitytypePublications-
item.languageiso639-1en-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
crisitem.author.deptEpilepsy Research Centre-
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