progressive myoclonus epilepsy 8

Term ID

DOID:0111451

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. (2)

References

• OMIM:616230
• ORDO:424027

Ontology

Human Disease   ( DOID:0111451 )