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Summary Literature (0)
DOID:0070442 - paroxysmal nonkinesigenic dyskinesia 3

Disease Ontology Definition:A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that has_material_basis_in heterozygous mutation in the KCNMA1 gene on chromosome 10q22.

Synonyms: generalized epilepsy and paroxysmal dyskinesia,

Xenbase Genes : kcnma1



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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), dystonia (is_a)