Reduced Sodium Current in Purkinje Neurons from Na(V)1.1 Mutant Mice: Implications for Ataxia in Severe Myoclonic Epilepsy in Infancy

Loss-of-function mutations of Na(V)1.1 channels cause severe myoclonic epilepsy in infancy (SMEI), which is accompanied by severe ataxia that contributes substantially to functional impairment and premature deaths. Mutant mice lacking Na(V)1.1 channels provide a genetic model for SMEI, exhibiting se...

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Publicado en:J Neurosci
Autores principales: Kalume, Franck, Yu, Frank H., Westenbroek, Ruth E., Scheuer, Todd, Catterall, William A.
Formato: Artigo
Lenguaje:Inglês
Publicado: Society for Neuroscience 2007
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Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6672849/
https://ncbi.nlm.nih.gov/pubmed/17928448
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.2162-07.2007
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