Version: 8.0.0
Date: Tue Jan 28 2025
progressive myoclonus epilepsy 8
DOID:0111451
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

progressive myoclonus epilepsy 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.
Synonyms
  • EMP8
  • PME type 8
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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