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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...

詳細記述

保存先:
書誌詳細
出版年:J Neurosci
主要な著者: Kalume, Franck, Yu, Frank H., Westenbroek, Ruth E., Scheuer, Todd, Catterall, William A.
フォーマット: Artigo
言語:Inglês
出版事項: Society for Neuroscience 2007
主題:
オンライン・アクセス: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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