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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Detalhes bibliográficos
Publicado no:Neurotherapeutics
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Springer US 2015
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4720675/
https://ncbi.nlm.nih.gov/pubmed/26252990
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13311-015-0372-8
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