Article
Primary episodic ataxias: diagnosis, pathogenesis and treatment.
Brain : a journal of neurology - 1 Oct 2007
Jen J C, Graves T D, Hess E J, Hanna M G, Griggs R C, Baloh R W
Abstract excerpt
Primary episodic ataxias are autosomal dominant channelopathies that manifest as attacks of imbalance and incoordination. Mutations in two genes, KCNA1 and CACNA1A, cause the best characterized and account for the majority of identified cases of episodic ataxia. We summarize current knowledge of clinical and genetic diagnosis, genotype-phenotype correlations, pathophysiology and treatment of episodic ataxia...
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