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episodic ataxia type 6

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description 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.
Uniprot Description A disorder characterized by episodic ataxia, seizures, migraine and alternating hemiplegia.
Disease Ontology Description An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the SLC1A3 gene.
Mondo Term and Equivalent IDs
MONDO:0012982:  episodic ataxia type 6
MESH:C567207: 
Orphanet:209967: 
SCTID:718753002: 
UMLS:C2675211: