Article
Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.
Tremor and other hyperkinetic movements (New York, N.Y.) - 1 Jan 2023
Hassan Anhar
Abstract excerpt
Background: Episodic ataxia (EA), characterized by recurrent attacks of cerebellar dysfunction, is the manifestation of a group of rare autosomal dominant inherited disorders. EA1 and EA2 are most frequently encountered, caused by mutations in KCNA1 and CACNA1A. EA3-8 are reported in rare families. Advances in genetic testing have broadened the KCNA1 and CACNA1A phenotypes, and detected EA as an unusual...
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