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Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy
Mutations of the voltage-gated sodium channel SCN8A have been identified in approximately 1% of nearly 1,500 children with early-infantile epileptic encephalopathies (EIEE) who have been tested by DNA sequencing. EIEE caused by mutation of SCN8A is designated EIEE13 (OMIM #614558). Affected children...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Frontiers Media S.A.
2015
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432670/ https://www.ncbi.nlm.nih.gov/pubmed/26029160 http://dx.doi.org/10.3389/fneur.2015.00104 |