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