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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Detalhes bibliográficos
Main Authors: 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
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha: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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