progressive myoclonus epilepsy 9

info · Genetic

A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the LMNB2 gene on chromosome 19p13.3.

Signs and symptoms

Scoliosis
Gait ataxia
Bilateral tonic-clonic seizure
Status epilepticus
Generalized myoclonic seizure
Microglossia
Agenesis of corpus callosum
Global developmental delay
Interhemispheric cyst
Action myoclonus

Also known as: EMP9; PME type 9; progressive myoclonic epilepsy due to LMNB2 deficiency; progressive myoclonus epilepsy type 9