episodic ataxia type 1

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Summary

Literature (7)

DOID:0050989 - episodic ataxia type 1

Disease Ontology Definition: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.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: kcna1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008047 - episodic ataxia type 1

MONDO:0008047 - episodic ataxia type 1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): episodic ataxia (is_a)