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Functional Characterization of a Novel Mutation in KCNA1 in Episodic Ataxia Type 1 Associated with Epilepsy

โœ Scribed by ALEXANDER SPAUSCHUS; LOUISE EUNSON; MICHAEL G. HANNA; DIMITRI M. KULLMANN

Book ID
111395842
Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
126 KB
Volume
868
Category
Article
ISSN
0890-6564

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๐Ÿ“œ SIMILAR VOLUMES

A novel mutation in KCNA1 causes episodi
A novel mutation in KCNA1 causes episodic ataxia without myokymia
โœ Hane Lee; Hui Wang; Joanna C. Jen; Chiara Sabatti; Robert W. Baloh; Stanley F. N ๐Ÿ“‚ Article ๐Ÿ“… 2004 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 215 KB

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.