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episodic ataxia type 1

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.
Uniprot Description An autosomal dominant disorder characterized by brief episodes of ataxia and dysarthria. Neurological examination during and between the attacks demonstrates spontaneous, repetitive discharges in the distal musculature (myokymia) that arise from peripheral nerve. Nystagmus is absent.
Disease Ontology Description An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1.
Mondo Term and Equivalent IDs
MONDO:0008047:  episodic ataxia type 1
Orphanet:37612: 
SCTID:421182009: 
UMLS:C1719788: 
UMLS:CN042654: