Mostrando 3 resultados de: 3
CHD2 variants are a risk factor for photosensitivity in epilepsy
ArticleAbstract: Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as partiPalabras claves:Eyelid myoclonia with absences, Photosensitive, SeizureAutores:Afrikanova T., Berkovic S.F., Boustred C., Cantonetti L., Capovilla G., Chinthapalli V.K., Coppola A., Covanis A., Crawford A.D., De Kovel C.G.F., Del Gaudio L., Drury S., Esguerra C.V., Galizia E.C., Helbig I., Jacmin M., Jocic-Jakubi B., Koeleman B.P.C., Krause R., Lehesjoki A.E., Lench N., Lerche H., Leu C., María Lorena Cordero-Maldonado, Martins T.G., Mefford H.C., Moller R.S., Muhle H., Mullen S.A., Myers C.T., Nürnberg P., Palotie A., Parisi P., Pendziwiat M., Piccioli M., Ruppert A.K., Sadleir L.G., Sander T., Scheffer I.E., Schneider A.L., Schubert J., Sisodiya S.M., Stephani U., Striano S., Thiele H., Trenité D.G.A.K.N., Veggiotti P.Fuentes:scopusGender-Specific Expression of Ubiquitin-Specific Peptidase 9 Modulates Tau Expression and Phosphorylation: Possible Implications for Tauopathies
ArticleAbstract: Public transcriptomic studies have shown that several genes display pronounced gender differences inPalabras claves:Alzheimer’s disease, Gender differences, Tau, Tauopathies, transcriptomics, zebrafishAutores:Antony P., Buttini M., Crawford A.D., Forster J.I., Garcia P., Glaab E., Köglsberger S., María Lorena Cordero-MaldonadoFuentes:scopusNew insights into the early mechanisms of epileptogenesis in a zebrafish model of Dravet syndrome
ArticleAbstract: Objective: To pinpoint the earliest cellular defects underlying seizure onset (epileptogenic period)Palabras claves:Dravet syndrome, epileptogenesis, fenfluramine, Sodium channel, zebrafishAutores:Brattespe J., Esguerra C.V., Gawel K., Grzyb K., Heintz S., María Lorena Cordero-Maldonado, Martina S., Poovathingal S.K., Satheesh S.V., Skupin A., Suster M., Tiraboschi E., van der Ent W., Xu J.Fuentes:scopus