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Human Disease
progressive myoclonus epilepsy 8
- Term ID
- DOID:0111451
- Synonyms
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- 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
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- MIM:616230
- ORDO:424027
- Ontology
- Human Disease ( DOID:0111451 )
- is a type of
-
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