Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

Autor: Ragna S, Boerma, Kees P, Braun, Marcel P H, van den Broek, Maarten P H, van de Broek, Frederique M C, van Berkestijn, Marielle E, Swinkels, Eveline O, Hagebeuk, Dick, Lindhout, Marjan, van Kempen, Maartje, Boon, Joost, Nicolai, Carolien G, de Kovel, Eva H, Brilstra, Bobby P C, Koeleman

Publikováno v: Neurotherapeutics
Neurotherapeutics, 13(1), 192. Springer New York
Neurotherapeutics, 13(1), 192-197. SPRINGER
Neurotherapeutics, 13(1), 192-197. Springer Verlag

Mutations in SCN8A are associated with epilepsy and intellectual disability. SCN8A encodes for sodium channel Nav1.6, which is located in the brain. Gain-of-function missense mutations in SCN8A are thought to lead to increased firing of excitatory ne

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fff71235a7be2aaf8e77e9be8eaa4c1d
http://europepmc.org/articles/PMC4720675