Na(v)1.1 Dysfunction in Genetic Epilepsy with Febrile Seizures Plus or Dravet Syndrome

Relatively few SCN1A mutations associated with genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome (DS) have been functionally characterized. In contrast to GEFS+, many mutations detected in DS patients are predicted to have complete loss-of-function. However, functional conseque...

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Autores principales: Volkers, Linda, Kahlig, Kristopher M., Verbeek, Nienke E., Das, Joost H.G., van Kempen, Marjan J.A., Stroink, Hans, Augustijn, Paul, van Nieuwenhuizen, Onno, Lindhout, Dick, George, Alfred L., Koeleman, Bobby P.C., Rook, Martin B.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2011
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3195841/
https://ncbi.nlm.nih.gov/pubmed/21864321
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1460-9568.2011.07826.x
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