episodic ataxia


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episodic ataxia

a term used to describe two distinct autosomal dominant ataxic syndromes (EA1 and EA2), characterized by transient (a few minutes to several hours' duration) bouts of ataxia Myokymia often is present interictally with EA1, whereas permanent cerebellar deficits occur with EA2. Condition is related to point mutations on the potassium channel gene on chromosome 12p (EA1) and the calcium channel gene on chromosome 19p (EA2).
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Krajciova et al., "Novel missense variant of CACNA1A gene: A case report of a family with episodic ataxia type 2," Journal of the Neurological Sciences, vol.
Kurca et al., "Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2," Biomedical Papers, vol.
Mauro, "Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation," Journal of the Neurological Sciences, vol.
Griffiths, "Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2," Molecular Genetics & Genomic Medicine, vol.
(2004) Dysfunction of the brain calcium channel [Ca.sub.V]2.1 in absence epilepsy and episodic ataxia. Brain 127: 2682-2692.
Coding and noncoding variation of the human calcium-channel [Beta]4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J.