Primary episodic ataxias: diagnosis, pathogenesis and treatment.


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… (More)


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@article{Jen2007PrimaryEA, title={Primary episodic ataxias: diagnosis, pathogenesis and treatment.}, author={Joanna C Jen and T. D. Graves and Ellen J Hess and Michael G. Hanna and Robert C. Griggs and Robert W. Baloh}, journal={Brain : a journal of neurology}, year={2007}, volume={130 Pt 10}, pages={2484-93} }