Dravet Syndrome Updates: Evolving Insights and Emerging Therapeutics

This narrative review aims to evaluate current literature on Dravet syndrome, integrating significant new findings into the existing knowledge of pathophysiology and disease course, and highlighting emerging treatments.

Beyond SCN1A pathogenic variants, recent findings implicate an expanding number of genes and polygenic interactions which may play a role in the pathophysiology of Dravet syndrome. Neuroimmune dysregulation during critical periods of early brain development may be an additional contributing factor. There is increased recognition of neurodevelopmental comorbidities and disease progression over the lifetime, with neurological decline in adulthood suggestive of a possible degenerative process. Emerging and investigational therapies, including gene-modulatory therapies, may provide improvement in seizures and other metrics. Along with an evolving understanding of Dravet syndrome, including its multifactorial disease mechanisms, clinical manifestations beyond seizures, and progression of disease, the advent of novel treatments offers the potential for improved care of patients across the lifespan.