More than epilepsy—a parent-initiated collaborative analysis of the research landscape and research needs in Dravet syndrome

Abstract Background Dravet syndrome (DS) is a developmental and epileptic encephalopathy associated with SCN1A mutations or deletions, significantly affecting patients and their families. Three European patient and family associations (PFAs) initiated the current analysis to advance DS research, identify unmet research needs, and propose future DS research directions. Methods A landscape analysis based on a SCOPUS and PubMed review of 3003 publications was performed, building the basis of workshops with selected stakeholders and opinion leaders. Results Advances have been made in DS epidemiology, clinical characterization, pathophysiology, and therapy. However, gaps remain in understanding the mechanisms, development, and management of cognitive, behavioral, social, motor, speech and language, and sleep problems. There is a poor understanding of DS in adulthood and sudden unexpected death in epilepsy (SUDEP) . Many patients endure difficult-to-treat seizures and side effects from polypharmacy. Disease-modifying therapies under development, including zorevunersen, ETX101, RT101, and mRNA modulators, promise causal therapy, potentially improving not only seizures but also development in behavioral, cognitive, and motor domains. Conclusion Patient and family associations emphasize that DS extends beyond epilepsy. Research on SUDEP mechanisms and non-epileptic symptoms is critical. Further studies on DS progression and treatments, involving standardized cognitive, behavioral, and motor metrics, alongside mortality rates, are necessary. More focus is needed on adult DS.