Title : High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.

Pub. Date : 1999 Jun 10

PMID : 10371528






1 Functional Relationships(s)
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1 BACKGROUND: EA2 is an autosomal dominant disorder characterized by recurrent acetazolamide-responsive attacks of cerebellar ataxia. Acetazolamide calcium voltage-gated channel subunit alpha1 A Homo sapiens