Disease-gene associations mined from literature

Human genes for progressive myoclonus epilepsy 8

Progressive myoclonus epilepsy 8 [DOID:0111451]

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:  progressive myoclonus epilepsy 8,  DOID:0111451,  EMP8,  PME type 8,  progressive myoclonic epilepsy due to CERS1 deficiency ...