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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

OMIM:616230

ORDO:424027

Synonyms

EMP8 [EXACT]

PME type 8 [EXACT]

progressive myoclonic epilepsy due to CERS1 deficiency [EXACT]

progressive myoclonus epilepsy type 8 [EXACT]

Parent Relationships

is_a progressive myoclonus epilepsy

is_a autosomal recessive disease

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