Conditions / Genetic
progressive myoclonus epilepsy 1B
info · Genetic
An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12.
Signs and symptoms
- Dysmetria
- Generalized myoclonic seizure
- Babinski sign
- Dysarthria
- Atonic seizure
- Ataxia
- Sensory axonal neuropathy
- Tremor
- Myoclonus
Also known as: EPM1B