Research into Dravet Syndrome, including preclinical, clinical, and social research, is vital to improve quality of life for families now and in the future. 2025 has been a landmark year for Dravet Syndrome research, with key areas of focus including sodium channel function, use and outcomes of anti-seizure medication, and an increasing interest in caregivers. There has been a record 217 publications focusing on Dravet Syndrome, and 5 clinical trials of potential new treatments; one of the most pivotal advancements has been the promise seen in disease-modifying clinical trials, offering hope for the future.
Dravet Syndrome UK’s research in 2025
2025 also marked an important year for DSUK’s research involvement. We launched our priority-setting project aiming to put families at the heart of our future research funding decisions, whilst continuing to support research projects across genomic editing, autonomic dysfunction, music therapy, and natural history.
DSUK’s medical Advisory Board continues to drive research in the condition, with publications spanning neurological health and climate change, disease trajectory and progression, SUDEP, treatment options, and genetic mechanisms.
Alongside this, DSUK played an active role in five peer-reviewed publications that advance our understanding of Dravet Syndrome and its impact:
Trauma, coping, and adjustment when parenting a child with Dravet syndrome (Mercier et al, Jan 2025, European Journal of Paediatric Neurology)
DSUK contribution: Claire Eldred (Director), Teresa Finch (Family Support Manager), and Galia Wilson (Chair of Trustees) contributed to the study conception, organised five focus groups with parents/carers in different locations in England and Scotland, and manuscript preparation.
This research revealed the severe psychological impact on families caring for a child with Dravet Syndrome; grief and loss, significant psychological distress, lack of support, and ongoing burden were found to be common experiences. A model of coping and adjustment was devised with five stages: trauma, initial coping with unintended consequences, demands exceeding capacity, secondary coping strategies, and integration. External support, therapeutic intervention, and peer connection emerged as key factors enabling families to adapt to their circumstances.
Impact: This publication provides evidence-based insight into the severe psychological toll of caring for a child with Dravet Syndrome; DSUK has used these findings to develop resources to support families in accessing mental health services.
Thank you to all those from the Dravet Syndrome UK community who gave up their time to take part in the focus groups and share their experiences so honestly.
Communicating a diagnosis of Dravet syndrome to parents/caregivers: An international Delphi consensus (Brunklaus et al, Feb 2025, Epilepsia Open)
DSUK contribution: Claire Eldred (Director) served on the steering committee and reviewed the final manuscript.
An international expert panel established best-practice guidance for communicating a Dravet Syndrome diagnosis. Consensus was reached that diagnosis should be delivered by a specialist in an undisturbed setting with adequate time, followed by structured follow-up consultations. The guidance specifies essential information to cover at diagnosis (explanation of the condition, seizure management, SUDEP risk, long-term treatment goals) and at subsequent visits.
Impact: We know that receiving a Dravet Syndrome diagnosis can be traumatic for families. By combining professional expertise with family experience, this guidance aims to ensure newly diagnosed families receive information in a way that is both clinically complete and emotionally informed.
Is there really evidence for neurodegeneration in Dravet syndrome? Commentary on the publication by Selvarajah et al (Sisodiya et al, Aug 2025, Epilepsia)
DSUK contribution: Claire Eldred (Director), and Galia Wilson (Chair of Trustees) reviewed the manuscript.
This international commentary examines whether cognitive and motor changes in adults with Dravet Syndrome represent true neurodegeneration or reflect the condition’s neurodevelopmental trajectory. The authors call for longitudinal and pathological studies, and emphasise the importance of identifying potential causes (medication effects, chronic seizures) that may explain observed changes.
Impact: Research on adults living with Dravet Syndrome is sparse yet understanding disease progression across the lifespan is critical for families and treatment planning. DSUK’s involvement ensures that family experiences and concerns inform this vital scientific debate. We remain committed to supporting research that clarifies the long-term outlook for adults living with Dravet Syndrome.
Fast Facts: Dravet Syndrome (Sisodiya, Wirrell & Clayton, Aug 2025, Karger Medical and Scientific Publishers)
DSUK contribution: Claire Eldred (Director), and Galia Wilson (Chair of Trustees) contributed to the development of the “Living with Dravet Syndrome” chapter.
This clinical reference guide provides healthcare professionals with concise, up to date information on Dravet Syndrome including aetiology, presentation and progression, diagnosis and management, comorbidities, supporting carers, and unmet needs. In the final chapter, the lived experience of caregiving is covered, highlighting gaps in professional support and the critical need for respite care.
Impact: Clear, accessible, clinical information reduces barriers to diagnosis and appropriate care which are exacerbated in rare conditions. DSUK’s contribution ensures that the family perspective is included, enabling clinicians to address not just seizures, but the whole-family impact of the condition.
The seen and unseen facets of Dravet syndrome across the disease trajectory: Insights from European ethnographic research (Dorris et al, Dec 2025, Epilepsy & Behavior)
DSUK contribution: Claire Eldred (Director), Neil Williamson (Trustee), and Teresa Finch (Family Support Manager) participated as research subjects, providing first-hand accounts of living with and caring for someone with Dravet Syndrome.
Through interviews and observations across five European countries, researchers identified distinct parental coping styles (the personal assistant, the maestro, the gatekeeper, the castaway). Common challenges including financial strain, work disruption, fears for the future, social isolation, inadequate support, and mental health struggles, were documented. The longitudinal mapping reveals how needs evolve from initial crisis through chronic adaptation to transition challenges, providing evidence for stage-appropriate interventions.
Impact: Families living with rare conditions often feel that their experiences are unseen and misunderstood. This study validates and illuminates the lived reality of Dravet Syndrome, providing evidence for targeted, stage-appropriate support. The findings identify specific advocacy priorities and research gaps to improve holistic, family-centered care.
Key publications in Dravet Syndrome in 2025
Several 2025 papers are particularly important for understanding mechanisms, outcomes, comorbidities, and the evolving treatment landscape in Dravet Syndrome:
- Prenatal sodium channel dysfunction in Dravet syndrome alters cortical development – Zourray C et al. Shows prenatal SCN1A dysfunction disrupts cortical development, with major implications for when disease‑modifying therapies should be given.
- Neurodevelopmental defects in Dravet syndrome Scn1a+/− mice: Targeting GABA-switch rescues behavioral dysfunctions but not seizures and mortality – Pizzamiglio L et al., Neurobiology of Disease. Increases our understanding of the mechanisms underlying different aspects of Dravet Syndrome.
- Qualitative evaluation of meaningful change in Dravet syndrome as measured by the Vineland‑3 – Patel A et al., Epilepsy & Behavior. Identifies which changes caregivers and clinicians consider meaningful, directly informing outcome selection for clinical trials.
- Seizures influence sleep macrostructure and the sleep–wake circadian rhythm in Dravet syndrome – Cossu A et al., Epilepsia. Shows how seizures and seizure activity disrupt sleep and circadian rhythm.
- Cognitive stagnation and executive function deficits in young children with SCN1A+ Dravet syndrome: Detailed characterization in the ENVISION natural history study – Brunklaus A et al., Epilepsia. Maps early cognitive and executive trajectories, highlighting critical windows for intervention.
- Systematic review of indirect costs to families of children with developmental epileptic encephalopathies – Abdelmageed S et al., Orphanet Journal of Rare Diseases. Quantifies financial and employment impacts on families, strengthening the case for better socioeconomic support.
- Dravet syndrome therapeutics: where are we, what works, and what’s next? – Cossu A et al., CNS Drugs. Summarises current treatments and emerging therapies, outlining the shift from purely symptomatic to potentially disease‑modifying approaches.
Looking Forward
As we look to the future, more transformative years for Dravet Syndrome research are ahead. We are on the precipice of a shift from purely symptomatic care towards targeted and potentially disease‑modifying treatment; over the coming years, emerging trial data will show how far this promise can be realised, and what it may mean for the next generation of families living with Dravet Syndrome. We can expect to deepen our understanding of progression across the lifespan, including initial data from the SCN1A Horizons study, and to see growth in research on real‑world outcomes in adults, comorbidities and the socioeconomic impact on families. Using DSUK’s priority‑setting project, we will explore how research can be made more beneficial, meaningful, and accessible to patients and caregivers, ensuring that future advances reflect the priorities of the community. DSUK will continue to inform and drive important advances in research that address the ongoing unmet needs of families living with Dravet Syndrome.