De novo mutation in CACNA1A caused aceta
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Yue, Qing; Jen, Joanna C.; Thwe, May Myo; Nelson, Stanley F.; Baloh, Robert W.
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Article
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1998
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John Wiley and Sons
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English
β 13 KB
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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