Episodic ataxia type 6

Definition

Episodic ataxia type 6 (EA6) is an exceedingly rare form of hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.

Also known as episodic ataxia type 6, hereditary episodic ataxia caused by mutation in SLC1A3, SLC1A3 hereditary episodic ataxia — per MONDO

Also identified as

• DOID 0050994 per MONDO
• MESH C567207 per MONDO
• OMIM 612656 per MONDO
• Orphanet 209967 per MONDO
• SCTID 718753002 per MONDO
• UMLS C2675211 per MONDO