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episodic ataxia type 2

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.
Uniprot Description An autosomal dominant disorder characterized by acetozolamide-responsive attacks of ataxia, migraine-like symptoms, interictal nystagmus, and cerebellar atrophy.
Disease Ontology Description An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A.
Mondo Term and Equivalent IDs
MONDO:0007163:  episodic ataxia type 2
GARD:0009602: 
MESH:C535506: 
Orphanet:97: 
SCTID:420932006: 
UMLS:C1720416: