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Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins [Image: see text]

OBJECTIVE: Episodic ataxia type 1 (EA1) is a monogenic channelopathy caused by mutations of the potassium channel gene KCNA1. Affected individuals carrying the same mutation can exhibit considerable variability in the severity of ataxia, neuromyotonia, and other associated features. We investigated...

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Detalhes bibliográficos
Main Authors: Graves, T.D., Rajakulendran, S., Zuberi, S.M., Morris, H.R., Schorge, S., Hanna, M.G., Kullmann, D.M.
Formato: Artigo
Idioma:Inglês
Publicado em: American Academy of Neurology 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2918890/
https://ncbi.nlm.nih.gov/pubmed/20660867
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3181ea9ee3
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