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DOID:0111447 - progressive myoclonus epilepsy 7
Disease Ontology Definition:A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1.
Synonyms: EPM7, MEAK, Myoclonus epilepsy and ataxia due to potassium channel mutation, PME type 7, Progressive myoclonic epilepsy due to KV3.1 deficiency, Progressive myoclonus epilepsy type 7,
Xenbase Genes
:
kcnc1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee