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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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Bibliografiske detaljer
Udgivet i:J Neurosci
Main Authors: Kalume, Franck, Yu, Frank H., Westenbroek, Ruth E., Scheuer, Todd, Catterall, William A.
Format: Artigo
Sprog:Inglês
Udgivet: Society for Neuroscience 2007
Fag:
Online adgang: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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