De novo mutations of voltage-gated sodium channel α(II) gene SCN2A in intractable epilepsies

BACKGROUND: Mutations of voltage-gated sodium channel α(II) gene, SCN2A, have been described in a wide spectrum of epilepsies. While inherited SCN2A mutations have been identified in multiple mild epilepsy cases, a de novo SCN2A-R102X mutation, which we previously reported in a patient with sporadic...

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Detalhes bibliográficos
Main Authors: Ogiwara, I, Ito, K, Sawaishi, Y, Osaka, H, Mazaki, E, Inoue, I, Montal, M, Hashikawa, T, Shike, T, Fujiwara, T, Inoue, Y, Kaneda, M, Yamakawa, K
Formato: Artigo
Idioma:Inglês
Publicado em: American Academy of Neurology 2009
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2754324/
https://ncbi.nlm.nih.gov/pubmed/19786696
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3181b9cebc
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