Term Name:	progressive myoclonus epilepsy 8
Synonyms:	EMP8, PME type 8, progressive myoclonic epilepsy due to CERS1 deficiency, progressive myoclonus epilepsy type 8
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.
Ontology:	Human Disease [DOID:0111451]   ( DOID:0111451 )