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Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea

✍ Scribed by Steven J. Shook; Hafsa Mamsa; Joanna C. Jen; Robert W. Baloh; Lan Zhou

Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
278 KB
Volume
37
Category
Article
ISSN
0148-639X

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## Abstract Episodic ataxia type 2 (EA2) is a dominantly inherited disorder, characterized by spells of ataxia, dysarthria, vertigo, and migraines, associated with mutations in the neuronal calcium‐channel gene __CACNA1A__. Ataxic spells lasting minutes to hours are provoked by stress, exercise, or

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