A Novel Epilepsy Mutation in the Sodium Channel SCN1A Identifies a Cytoplasmic Domain for β Subunit Interaction

A mutation in the sodium channel SCN1A was identified in a small Italian family with dominantly inherited generalized epilepsy with febrile seizures plus (GEFS+). The mutation, D1866Y, alters an evolutionarily conserved aspartate residue in the C-terminal cytoplasmic domain of the sodium channel α s...

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Detalhes bibliográficos
Publicado no:J Neurosci
Main Authors: Spampanato, J., Kearney, J. A., de Haan, G., McEwen, D. P., Escayg, A., Aradi, I., MacDonald, B. T., Levin, S. I., Soltesz, I., Benna, P., Montalenti, E., Isom, L. L., Goldin, A. L., Meisler, M. H.
Formato: Artigo
Idioma:Inglês
Publicado em: Society for Neuroscience 2004
Assuntos:
Neurobiology of Disease
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6730248/
https://ncbi.nlm.nih.gov/pubmed/15525788
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.2034-04.2004
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