Unverricht–Lundborg Disease

Unverricht–Lundborg disease is a rare autosomal recessive progressive myoclonic epilepsy with onset in childhood or adolescence. Clinical features include action myoclonus, generalized tonic–clonic seizures, and mild cognitive impairment. Pathophysiology involves mutations in the CSTB gene, leading to abnormal neuronal excitability. Diagnosis is clinical, supported by EEG and genetic testing. Management includes antiepileptic drugs and supportive care; prognosis involves lifelong seizure management, with cognitive outcomes generally preserved.