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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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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
American Academy of Neurology
2010
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| Matèries: | |
| Accés en línia: | 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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