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Summary Literature (1)
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

In OMIM:
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
Parent(s): autosomal dominant disease (is_a), progressive myoclonus epilepsy (is_a)