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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Bibliografske podrobnosti
izdano v: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.
Format: Artigo
Jezik:Inglês
Izdano: Springer US 2015
Teme:
Original Article
Online dostop: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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