释义 |
episodic ataxia
episodic ataxiaa 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).AcronymsSeeearly action |