Journal article
CHD2 variants are a risk factor for photosensitivity in epilepsy
Brain : a journal of neurology | OXFORD UNIV PRESS | Published : 2015
DOI: 10.1093/brain/awv052
Open access
Abstract
© The Author (2015). Published by Oxford University Press on behalf of the Guarantors of 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 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 abnorm..
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Awarded by National Institute of Child Health and Human Development
Funding Acknowledgements
Funding was provided by the Wellcome Trust (SMS, grant 084730), the Henry Smith Charity (SMS), Action Medical Research (SMS), National Institutes of Health (HCM R56NS69605), National Health and Medical Research Council of Australia (SFB, IES), Health Research Council of New Zealand (LGS), The Netherlands National Epilepsy Fund (grant 04-08 to B.P.C.K), German Research Foundation (HE 5415 3-1) within the EuroEPINOMICS framework of the Eurocores program by the European Science Foundation (ESF), intramural funds of the University of Kiel, Germany. H.L., P.N. and T.S. received grants by the EuroEPINOMICS programme (German Research Council, DFG grant numbers: HL: LE1030/11-1; PN: NU50/8-1, TS: SA434/5-1) within the EUROCORES framework of the European Science Foundation (ESF); the collection of the CoGIE cohort was also supported by the EuroEPINOMICS program. Patient collection in Europe was partly made possible thanks to the European FP6 Marie Curie Excellence Grant on Visual Sensitivity MEXCT-CT-2005-024224. CVE is an Industrial Research Fund mandate holder of the KU Leuven. This work was partly undertaken at UCLH/UCL, which received a proportion of funding from the Department of Health's NIHR Biomedical Research Centres funding scheme.