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Three novel KCNA1 mutations in episodic ataxia type I families

โœ Scribed by H. Scheffer; E. R. P. Brunt; G. J. J. Mol; P. van der Vlies; Stulp; E. Verlind; G. Mantel; Y. N. Averyanov; R. M. W. Hofstra; C. H. C. M. Buys

Book ID
106136936
Publisher
Springer
Year
1998
Tongue
English
Weight
125 KB
Volume
102
Category
Article
ISSN
0340-6717

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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.