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Impaired Na(V)1.2 Function and Reduced Cell Surface Expression in Benign Familial Neonatal-Infantile Seizures
PURPOSE: Mutations in SCN2A, the gene encoding the brain voltage-gated sodium channel α-subunit Na(V)1.2, are associated with inherited epilepsies including benign familial neonatal-infantile seizures (BFNIS). Functional characterization of three BFNIS mutations was performed to identify defects in...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2008
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3647030/ https://ncbi.nlm.nih.gov/pubmed/18479388 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1528-1167.2008.01619.x |
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