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

โœ Scribed by Haijun Chen; Christian von Hehn; Leonard K. Kaczmarek; Laura R. Ment; Barbara R. Pober; Fuki M. Hisama


Publisher
Springer
Year
2006
Tongue
English
Weight
201 KB
Volume
8
Category
Article
ISSN
1364-6745

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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.