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CHD2 variants are a risk factor for photosensitivity in epilepsy.
Galizia EC, Myers CT, Leu C, de Kovel CG, Afrikanova T, Cordero-Maldonado ML, Martins TG, Jacmin M, Drury S, Krishna Chinthapalli V, Muhle H, Pendziwiat M, Sander T, Ruppert AK, Møller RS, Thiele H, Krause R, Schubert J, Lehesjoki AE, Nürnberg P, Lerche H; EuroEPINOMICS CoGIE Consortium; Palotie A, Coppola A, Striano S, Gaudio LD, Boustred C, Schneider AL, Lench N, Jocic-Jakubi B, Covanis A, Capovilla G, Veggiotti P, Piccioli M, Parisi P, Cantonetti L, Sadleir LG, Mullen SA, Berkovic SF, Stephani U, Helbig I, Crawford AD, Esguerra CV, Kasteleijn-Nolst Trenité DG, Koeleman BP, Mefford HC, Scheffer IE, Sisodiya SM. Galizia EC, et al. Brain. 2015 May;138(Pt 5):1198-207. doi: 10.1093/brain/awv052. Epub 2015 Mar 17. Brain. 2015. PMID: 25783594 Free PMC article.
Clinical and genetic analysis of a family with two rare reflex epilepsies.
Kasteleijn-Nolst Trenité DG, Volkers L, Strengman E, Schippers HM, Perquin W, de Haan GJ, Gkountidi AO, van't Slot R, van de Graaf SF, Jocic-Jakubi B, Capovilla G, Covanis A, Parisi P, Veggiotti P, Brinciotti M, Incorpora G, Piccioli M, Cantonetti L, Berkovic SF, Scheffer IE, Brilstra EH, Sonsma AC, Bader AJ, de Kovel CG, Koeleman BP. Kasteleijn-Nolst Trenité DG, et al. Seizure. 2015 Jul;29:90-6. doi: 10.1016/j.seizure.2015.03.020. Epub 2015 Apr 6. Seizure. 2015. PMID: 26076849 Free article.
EpiNet as a way of involving more physicians and patients in epilepsy research: Validation study and accreditation process.
Bergin PS, Beghi E, Sadleir LG, Brockington A, Tripathi M, Richardson MP, Bianchi E, Srivastava K, Jayabal J, Legros B, Ossemann M, McGrath N, Verrotti A, Tan HJ, Beretta S, Frith R, Iniesta I, Whitham E, Wanigasinghe J, Ezeala-Adikaibe B, Striano P, Rosemergy I, Walker EB, Alkhidze M, Rodriguez-Leyva I, Ramírez González JA, D'Souza WJ; EpiNet Study Group. Bergin PS, et al. Epilepsia Open. 2017 Jan 3;2(1):20-31. doi: 10.1002/epi4.12033. eCollection 2017 Mar. Epilepsia Open. 2017. PMID: 29750210 Free PMC article.
22 results