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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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Hlavní autoři: Graves, T.D., Rajakulendran, S., Zuberi, S.M., Morris, H.R., Schorge, S., Hanna, M.G., Kullmann, D.M.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Academy of Neurology 2010
Témata:
On-line přístup: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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