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Summary Literature (0)
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
Parent(s): autosomal recessive disease (is_a), progressive myoclonus epilepsy (is_a)