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Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia

Myokymia is characterized by spontaneous, involuntary muscle fiber group contraction visible as vermiform movement of the overlying skin. Myokymia with episodic ataxia is a rare, autosomal dominant trait caused by mutations in KCNA1, encoding a voltage-gated potassium channel. In the present study,...

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Detalles Bibliográficos
Autores principales: Chen, Haijun, von Hehn, Christian, Kaczmarek, Leonard K., Ment, Laura R., Pober, Barbara R., Hisama, Fuki M.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2006
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1820748/
https://www.ncbi.nlm.nih.gov/pubmed/17136396
http://dx.doi.org/10.1007/s10048-006-0071-z