ICD·index Chapters ENESDE
8A03.14 category

Hereditary episodic ataxia

Definition

Autosomal dominant disorders associated with intermittent episodes of cerebellar dysfunction, with normal functioning or minimal ataxia and nystagmus between episodes. The two major subtypes include EA1 and EA2. EA1 is caused by a mutation of the KCNA1 gene coding and characterized by episodes triggered by exercise and muscle myokymia. EA2 is caused by a mutation in CACNA1A gene and involves more prolonged attacks of ataxia (lasting hours to days), and interictal residual ataxia with nystagmus.

Also indexed as

Episodic ataxia type 1Episodic ataxia type 1 - KCNA1 mutationEpisodic ataxia type 2 - CACNA1A mutationEpisodic ataxia type 3 - 1q42 mutationEpisodic ataxia type 4Episodic ataxia type 5Episodic ataxia type 5 - CACNB4 mutationEpisodic ataxia type 6Episodic ataxia type 7Familial paroxysmal ataxiaHereditary episodic ataxia

Nearby in Hereditary ataxia