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The SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin

OBJECTIVE: SCN8A encephalopathy (EIEE13) is caused by gain-of-function mutations resulting in hyperactivity of the voltage-gated sodium channel Na(v)1.6. The channel is concentrated at the axon initial segment (AIS) and is involved in establishing neuronal excitability. Clinical features of SCN8A en...

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Detalhes bibliográficos
Publicado no:Epilepsia
Main Authors: Barker, Bryan S., Ottolini, Matteo, Wagnon, Jacy L., Hollander, Rachel, Meisler, Miriam H., Patel, Manoj K.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5012949/
https://ncbi.nlm.nih.gov/pubmed/27375106
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/epi.13461
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