progressive myoclonus epilepsy 8

Summary

DOID:0111451 - progressive myoclonus epilepsy 8

Disease Ontology Definition:A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11.

Synonyms: EMP8, PME type 8, progressive myoclonic epilepsy due to CERS1 deficiency, progressive myoclonus epilepsy type 8,

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

: cers1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), progressive myoclonus epilepsy (is_a)