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Distinct functional alterations in SCN8A epilepsy mutant channels
SCN8A is a novel causal gene for early infantile epileptic encephalopathy. It is well accepted that gain-of-function mutations in SCN8A underlie the disorder, but the remarkable heterogeneity of its clinical presentation and poor treatment response demand for better understanding of the disease mech...
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| Publicado no: | J Physiol |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7216308/ https://ncbi.nlm.nih.gov/pubmed/31715021 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1113/JP278952 |
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