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A novel mutation in KCNA1 causes episodic ataxia without myokymia

✍ Scribed by Hane Lee; Hui Wang; Joanna C. Jen; Chiara Sabatti; Robert W. Baloh; Stanley F. Nelson

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 215 KB
Volume: 24
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.9295

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✦ Synopsis

We describe a unique family in which several individual are affected with episodes of ataxia that best fit the phenotype of episodic ataxia type 2 (EA2). All of the affected family members had episodes typically lasting for several hours, and none of them had muscle abnormalities including myokymia. Episodic ataxia type 1 (EA1) was not considered initially as a clinical diagnosis for the affected individuals in this family. However, by linkage mapping, sequencing and polymorphism analysis, all affecteds were found to have a novel mutation in KCNA1. Numerous missense mutations have been described previously in KCNA1 that cause EA1. The mutation c.1025G>T replaces a highly conserved serine with isoleucine at position 342 (p.Ser342Ile) in the highly conserved fifth transmembrane domain of the KCNA1. This mutation leads to a distinct clinical phenotype without myokymia broadening the scope of clinical characteristics of EA1 and highlighting the heterogeneity of phenotypic effects from distinct missense mutations.

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