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Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy

Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel α(1) subunit (Na(V)1.1), are associated with at least two forms of epilepsy, generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy of infancy (SMEI). We examined the functional properties of five SME...

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Udgivet i:Proc Natl Acad Sci U S A
Principais autores: Rhodes, Thomas H., Lossin, Christoph, Vanoye, Carlos G., Wang, Dao W., George, Alfred L.
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2004
Fag:
Biological Sciences
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC503754/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/15263074/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.0402482101
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