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

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 neurons containing Nav1.6, and therefore to lead to...

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Detalles Bibliográficos
Autores principales: Boerma, Ragna S., Braun, Kees P., van de Broek, Maarten P. H., van Berkestijn, Frederique M. C., Swinkels, Marielle E., Hagebeuk, Eveline O., Lindhout, Dick, van Kempen, Marjan, Boon, Maartje, Nicolai, Joost, de Kovel, Carolien G., Brilstra, Eva H., Koeleman, Bobby P. C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2015
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4720675/
https://www.ncbi.nlm.nih.gov/pubmed/26252990
http://dx.doi.org/10.1007/s13311-015-0372-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4720675/
https://www.ncbi.nlm.nih.gov/pubmed/26252990
http://dx.doi.org/10.1007/s13311-015-0372-8

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