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 KCNC1 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
|OMIM:616187 - EPILEPSY, PROGRESSIVE MYOCLONIC 7; EPM7|
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes : kcnc1
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD