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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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書目詳細資料
發表在:J Neurosci
Main Authors: Kalume, Franck, Yu, Frank H., Westenbroek, Ruth E., Scheuer, Todd, Catterall, William A.
格式: Artigo
語言:Inglês
出版: Society for Neuroscience 2007
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在線閱讀: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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