Dravet Syndrome: Expanding Perspectives on Pathophysiology, Clinical Spectrum, and Emerging Therapeutic Strategies

Early-onset protracted febrile seizures that progress to drug-resistant epilepsy with neurodevelopmental damage are the hallmarks of Dravet syndrome (DS), a rare, severe developmental and epileptic encephalopathy. First described in 1978, DS is now recognized as a genetic channelopathy predominantly caused by pathogenic variants in the SCN1A gene. The disorder carries significant morbidity and mortality, including a high risk of status epilepticus and sudden unexpected death in epilepsy (SUDEP). Advances in molecular genetics have enhanced diagnostic precision and enabled targeted therapeutic approaches such as cannabidiol and fenfluramine. Despite these advances, comprehensive multidisciplinary care remains essential. This review provides a detailed discussion of epidemiology, molecular mechanisms, clinical progression, diagnostic challenges, management strategies, complications, prognosis, and future directions in Dravet syndrome.