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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...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:J Neurosci
Päätekijät: Kalume, Franck, Yu, Frank H., Westenbroek, Ruth E., Scheuer, Todd, Catterall, William A.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Society for Neuroscience 2007
Aiheet:
Linkit: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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