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A novel insertion mutation of acetazolamide-responsive episodic ataxia in a Japanese family

✍ Scribed by Zenjiro Matsuyama; Masahiko Murase; Hirotaka Shimizu; Yoko Aoki; Misato Hayashi; Isao Hozumi; Takashi Inuzuka


Book ID
119465935
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
104 KB
Volume
210
Category
Article
ISSN
0022-510X

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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

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