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Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs.
von Stülpnagel C, Ensslen M, Møller RS, Pal DK, Masnada S, Veggiotti P, Piazza E, Dreesmann M, Hartlieb T, Herberhold T, Hughes E, Koch M, Kutzer C, Hoertnagel K, Nitanda J, Pohl M, Rostásy K, Haack TB, Stöhr K, Kluger G, Borggraefe I. von Stülpnagel C, et al. Among authors: veggiotti p. Eur J Paediatr Neurol. 2017 May;21(3):530-541. doi: 10.1016/j.ejpn.2017.01.001. Epub 2017 Jan 14. Eur J Paediatr Neurol. 2017. PMID: 28109652
Long-term follow-up in children with benign convulsions associated with gastroenteritis.
Verrotti A, Moavero R, Vigevano F, Cantonetti L, Guerra A, Spezia E, Tricarico A, Nanni G, Agostinelli S, Chiarelli F, Parisi P, Capovilla G, Beccaria F, Spalice A, Coppola G, Franzoni E, Gentile V, Casellato S, Veggiotti P, Malgesini S, Crichiutti G, Balestri P, Grosso S, Zamponi N, Incorpora G, Savasta S, Costa P, Pruna D, Cusmai R. Verrotti A, et al. Among authors: veggiotti p. Eur J Paediatr Neurol. 2014 Sep;18(5):572-7. doi: 10.1016/j.ejpn.2014.04.006. Epub 2014 Apr 14. Eur J Paediatr Neurol. 2014. PMID: 24780603
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. Among authors: veggiotti p. Brain. 2015 May;138(Pt 5):1198-207. doi: 10.1093/brain/awv052. Epub 2015 Mar 17. Brain. 2015. PMID: 25783594 Free PMC article.
232 results