Lafora disease 2

A Lafora disease that has_material_basis_in homozygous or compound heterozygous mutation in the NHLRC1 gene, which encodes malin, on chromosome 6p22.

Signs and symptoms

• Lafora bodies
• Myoclonus
• Myoclonic seizure
• Bilateral tonic-clonic seizure
• Progressive neurologic deterioration
• Gait disturbance
• Dementia
• Typical absence seizure
• Atonic seizure
• Focal impaired awareness seizure

Also known as: progressive myoclonic epilepsy 2B