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SCN8A encephalopathy: Mechanisms and Models

De novo mutations of the neuronal sodium channel SCN8A have been identified in approximately 2% of individuals with epileptic encephalopathy. These missense mutations alter the biophysical properties of sodium channel Nav1.6 in ways that lead to neuronal hyperexcitability. We generated two mouse mod...

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Detalles Bibliográficos
Publicado en:Epilepsia
Autor Principal: Meisler, Miriam
Formato: Artigo
Idioma:Inglês
Publicado: 2019
Assuntos:
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6953611/
https://ncbi.nlm.nih.gov/pubmed/31904118
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/epi.14703
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