Episodic Ataxia Type 2

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by mutation(s) in the CACNA1A gene, encoding voltage-dependent P/Q-type calcium channel subunit alpha-1A. It is characterized by paroxysms of vertigo, visual disturbance, dysarthria, and ataxia.

**Synonyms:** - EA2