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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 : cers1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee