Episodic ataxia type 2

Definition

A form of hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.

Also known as CACNA1A hereditary episodic ataxia, episodic ataxia type 2, hereditary episodic ataxia caused by mutation in CACNA1A — per MONDO

Also identified as

• DOID 0050990 per MONDO
• MESH C535506 per MONDO
• OMIM 108500 per MONDO
• Orphanet 97 per MONDO
• SCTID 420932006 per MONDO
• UMLS C1720416 per MONDO