| Metadata | |
|---|---|
| ID | DOID:0111451 |
| Name | 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. https://www.ncbi.nlm.nih.gov/pubmed/19243074, https://www.ncbi.nlm.nih.gov/pubmed/24782409 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
EMP8 [EXACT] PME type 8 [EXACT] progressive myoclonic epilepsy due to CERS1 deficiency [EXACT] progressive myoclonus epilepsy type 8 [EXACT] |
| Parent Relationships |