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Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1
Mutations of KCNA1, which codes for the K(+) channel subunit hKv1.1, are associated with the human autosomal dominant disease episodic ataxia type 1 (EA1). Five recently described mutations are associated with a broad range of phenotypes: neuromyotonia alone or with seizures, EA1 with seizures, or v...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Blackwell Science Inc
2002
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2290030/ https://ncbi.nlm.nih.gov/pubmed/11773313 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1113/jphysiol.2001.013242 |
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