Myoclonic Absence Seizures in Dravet Syndrome

Abstract

BACKGROUND: Dravet syndrome is a developmental and epileptic encephalopathy that occurs as a result of SCN1A mutations in more than 80% of affected individuals. The core clinical features of Dravet syndrome include febrile and afebrile seizures beginning before 12 months; multiple seizure types, usually medically refractory, including hemiclonic, generalized tonic-clonic, focal impaired awareness, myoclonic, and absence seizures; status epilepticus; and normal early development with plateau or regression by age two years. Myoclonic absence seizures have not previously been described. PATIENT DESCRIPTION: This 20-year-old man had infantile-onset epilepsy with the classical clinical features o..