A novel mutation in KCNA1 causes episodi
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Hane Lee; Hui Wang; Joanna C. Jen; Chiara Sabatti; Robert W. Baloh; Stanley F. N
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Article
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2004
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John Wiley and Sons
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English
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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.