progressive myoclonus epilepsy 1A

An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3.

Signs and symptoms

• Myoclonus
• Bilateral tonic-clonic seizure
• Ataxia
• EEG with spike-wave complexes
• Interictal epileptiform activity
• Dysarthria
• Generalized non-motor (absence) seizure
• EEG with polyspike wave complexes
• Mental deterioration
• Mild intellectual disability

Also known as: EPM1A