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Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy
OBJECTIVE: Recently, de novo SCN8A missense mutations have been identified as a rare dominant cause of epileptic encephalopathies. Functional studies on the first described case demonstrated gain-of-function effects of the mutation. We describe a novel de novo mutation of SCN8A in a patient with epi...
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Publicado en: | Epilepsy Res |
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Autores principales: | , , , , , , , , , , , , |
Formato: | Artigo |
Lenguaje: | Inglês |
Publicado: |
2014
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Materias: | |
Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4490185/ https://ncbi.nlm.nih.gov/pubmed/25239001 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.eplepsyres.2014.08.020 |
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