Typical progression of myoclonic epilepsy of the Lafora type: a case report

Background A 20-year-old woman presented to a specialist epilepsy center with a 3-year history of drug-resistant epileptic seizures, progressive myoclonus, ataxia, and cognitive decline. Investigations Neurological examination, neuropsychological testing, electrophysiological studies, skin biopsy, MRI, genetic testing, and autopsy. Diagnosis Lafora disease (EPM2), resulting from a homozygous missense mutation in EPM2B (NHLRC1; c205C>G; Pro69Ala). Management Symptomatic treatment with conventional antiepileptic and antimyoclonic drugs.