Article
CHD2 variants are a risk factor for photosensitivity in epilepsy.
Brain : a journal of neurology - 1 May 2015
Galizia Elizabeth C, Myers Candace T, Leu Costin, de Kovel Carolien G F, Afrikanova Tatiana, Cordero-Maldonado Maria Lorena, Martins Teresa G, Jacmin Maxime, Drury Suzanne, Krishna Chinthapalli V, Muhle Hiltrud, Pendziwiat Manuela, Sander Thomas, Ruppert Ann-Kathrin, Møller Rikke S, Thiele Holger, Krause Roland, Schubert Julian, Lehesjoki Anna-Elina, Nürnberg Peter, Lerche Holger, Palotie Aarno, Coppola Antonietta, Striano Salvatore, Gaudio Luigi Del, Boustred Christopher, Schneider Amy L, Lench Nicholas, Jocic-Jakubi Bosanka, Covanis Athanasios, Capovilla Giuseppe, Veggiotti Pierangelo, Piccioli Marta, Parisi Pasquale, Cantonetti Laura, Sadleir Lynette G, Mullen Saul A, Berkovic Samuel F, Stephani Ulrich, Helbig Ingo, Crawford Alexander D, Esguerra Camila V, Kasteleijn-Nolst Trenité Dorothee G A, Koeleman Bobby P C, Mefford Heather C, Scheffer Ingrid E, Sisodiya Sanjay M
Abstract excerpt
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...
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