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A single‐center SCN8A‐related epilepsy cohort: clinical, genetic, and physiologic characterization

OBJECTIVE: Pathogenic variants in SCN8A, encoding the voltage‐gated sodium (Na+) channel α subunit Nav1.6, is a known cause of epilepsy. Here, we describe clinical and genetic features of all patients with SCN8A epilepsy evaluated at a single‐tertiary care center, with biophysical data on identified...

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Detalles Bibliográficos
Autores principales:	Zaman, Tariq, Abou Tayoun, Ahmad, Goldberg, Ethan M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6689675/ https://www.ncbi.nlm.nih.gov/pubmed/31402610 http://dx.doi.org/10.1002/acn3.50839

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