Conditions / Genetic
Lafora disease 1
info · Genetic
A Lafora disease that has_material_basis_in homozygous or compound heterozygous mutation in the EPM2A gene on chromosome 6q24.
Signs and symptoms
- Focal sensory seizure with visual features
- Bilateral tonic-clonic seizure
- Progressive neurologic deterioration
- Visual loss
- Visual hallucination
- Cutaneous photosensitivity
- Hepatic failure
- Gait disturbance
- Generalized myoclonic seizure
- Apraxia
Also known as: progressive myoclonic epilepsy 2A