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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| 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 |