Dravet Syndrome: Past, Present, and Future.

Abstract

Dravet syndrome (DS) is a severe and rare developmental epileptic encephalopathy and genetic epilepsy characterized by the onset of seizures before 1 year of age, typically prolonged generalized tonic-clonic or hemiclonic seizures, specific triggers such as vaccination, high body temperature, or photic stimulation, and normal development before seizure onset. It was proposed in 1989 and confirmed as a genetic epilepsy in 2001 due to SCN1A gene mutations. The seizures are pharmacoresistant, and the prognosis is poor. Comorbidities include movement disorders, intellectual disabilities, behavioral and psychiatric issues, and a high risk of sudden unexpected death in epilepsy (SUDEP). Despite significant advances in understanding the natural course of DS and its pathophysiological mechanisms, management remains difficult. Current treatments, including various antiseizure medications and neuromodulation therapies, rarely achieve complete seizure freedom and fail to prevent cognitive decline. The review aims to summarize the advancements in diagnosis, optimal management, and the prognosis of DS into adulthood while discussing the ongoing challenges, unresolved needs, and potential areas for future research. In addition, it highlights the importance of early intervention, prognostic factors, and the critical need for effective management strategies beyond seizure control, encompassing cognitive preservation, SUDEP prevention, and addressing sleep problems.