paroxysmal nonkinesigenic dyskinesia 3

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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 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

: kcnma1

Other Model Organisms: Alliance, 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)