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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:scopusl-Isoaspartyl Methyltransferase Deficiency in Zebrafish Leads to Impaired Calcium Signaling in the Brain
ArticleAbstract: Isomerization of l-aspartyl and l-asparaginyl residues to l-isoaspartyl residues is one type of protPalabras claves:Calcium signaling, HT22 cells, isoaspartyl, protein repair, zebrafishAutores:Clarke S.G., Conrotte J.F., Crawford A.D., Linster C.L., María Lorena Cordero-Maldonado, Martins T.G., Moein M., Skupin A., Soliman R., Warmack R.A.Fuentes:scopus