Title : De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia.

Pub. Date : 1998 May 26

PMID : 9600739






2 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia. Acetazolamide calcium voltage-gated channel subunit alpha1 A Homo sapiens
2 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. Acetazolamide calcium voltage-gated channel subunit alpha1 A Homo sapiens