OBO ID: DOID:0111451
Term Name: progressive myoclonus epilepsy 8 Search Ontology:
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:
Ontology: Human Disease   (DOID:0111451)
OTHER progressive myoclonus epilepsy 8 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CERS1 Epilepsy, progressive myoclonic, 8 616230
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None