Progressive myoclonic epilepsy type 1 (EPM1) disease: clinical manifestations

This 18-year-old girl has progressive myoclonic epilepsy type 1 (EPM1) disease that began at 12 years of age with action myoclonus and generalized tonic-clonic seizures. Despite major antimyoclonic therapy, including valproate, phenobarbital, benzodiazepines, and piracetam at 27 g/day, she is markedly handicapped by major myoclonic jerks elicited by action, intention of action, or even any cutaneous stimuli. There is also a pseudocerebellar syndrome with the finger-to-nose maneuver and marked photosensitivity. (Courtesy of Dr. P Thomas. From: The educational Kit on Epilepsies. Volume 2: Idiopathic generalised epilepsies with myoclonic jerks. Oxford: Medicinae, 2007.)