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New mutation of CACNA1A gene in episodic ataxia type 2

✍ Scribed by Koki Nikaido; Nobutada Tachi; Kazuhiro Ohya; Takahito Wada; Hiroyuki Tsutsumi


Book ID
108973237
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
194 KB
Volume
53
Category
Article
ISSN
1328-8067

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With the recent report of mutations in the calcium channel gene CACNA1A in two families with episodic ataxia type 2, we investigated a patient with nonfamilial episodic vertigo and ataxia responsive to acetazolamide for similar mutations. Singlestrand conformation polymorphism (SSCP) analysis of exo