progressive myoclonus epilepsy 8

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 heterozygo

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.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Progressive neurologic deterioration
• Delayed speech and language development
• Truncal ataxia
• Choreoathetosis
• Gait disturbance
• Cerebellar atrophy
• Dysarthria
• Global developmental delay
• Limb ataxia

Also known as: EMP8; PME type 8; progressive myoclonic epilepsy due to CERS1 deficiency; progressive myoclonus epilepsy type 8