Dravet Syndrome UK (DSUK) attended the American Epilepsy Society (AES) meeting in Atlanta in December 2025. Our Chief Scientific Officer, Ceri, attended presentations focused on our priority research areas to assess our current understanding: challenges beyond seizures, adults living with Dravet Syndrome, and the impact on the whole family. Here’s what we learned.
Understanding the Challenges Beyond Seizures
In the presidential symposium about the impact of seizures, researchers explained that seizures in early postnatal life impact key brain maturation functions, further affecting development beyond the genetic cause. A thorough debate explored the causes of intellectual disability and developmental delay in developmental and epileptic encephalopathies (DEEs), including Dravet Syndrome. We learnt that severe and frequent seizures and abnormal activity between seizures are all known to impact learning in adults, features that are prominent in early life in Dravet Syndrome. Despite this, it was highlighted that the paediatric brain responds differently to seizures than the adult brain, an area where the impact of seizures on cognition is less understood; delays in diagnosis mean we haven’t been able to intervene early enough to prevent seizures and see the true impact of seizures on cognition in these conditions.
During the presidential symposium, it was highlighted that people with DEEs have complete or near-complete impairment in fundamental areas of function such as communication, mobility, and feeding. Yet the way disorders are defined, based on their first-presenting symptoms (seizures in Dravet Syndrome), means these comorbidities often become secondary in focus. Dr Berg questioned this approach: if these other difficulties presented first, they would be investigated and treated as priorities. She emphasised a crucial point that seizures may be less important than everything else in terms of burden. Dr Jenny Downs reinforced this message, urging clinicians to “understand the complexities of patients, think about the whole body and not just their seizures.” It was heartening to hear epilepsy specialists recognising that DEEs are about more than seizures alone.
A major focus on the neurodevelopmental aspects of DEEs is encouraging, given how much intellectual disability impacts quality of life for both the person and their family. Unpacking these mechanisms could identify actionable treatment targets and optimal intervention timing.
Dr Arjune Sen commented that sleep is likely to be the next frontier of epilepsy, a welcome prediction given the high prevalence of sleep problems in Dravet Syndrome. However, the lack of focus on other aspects, including mobility, neuropsychiatric conditions, and feeding difficulties, may represent gaps in current information indicating these are important future research areas.
Adults Living with Dravet Syndrome
Research was presented showing that adult neurologists are significantly less likely than paediatric doctors to have experience with genetic testing or believe it’s clinically useful. Yet the same genes that cause epilepsy in children are found in adults. Dr Ellis emphasised that “SCN1A is common, and actionable, at all ages”; finding the genetic cause is the first step to finding beneficial treatments.
It was highlighted that across epilepsy, there is a 2-4 times increased risk of developing dementia. Seizures can promote cell-loss pathways and are associated with multiple pathogenic proteins. Additionally, the risk factors for dementia, including social isolation, reduced physical activity, and brain injury, are seen more commonly in epilepsy. However, there was a lack of information on ageing in Dravet Syndrome where seizure burden is high and use of anti-seizure medication prolonged, so our specific understanding of dementia in Dravet Syndrome is limited.
Dr Berg commented that most children with DEEs survive into adulthood, yet across studies on epilepsy, older adults are excluded from clinical trials and under-represented in studies about SUDEP and status epilepticus. There were calls for longitudinal data from large cohorts looking at different domains to properly assess the prevalence and risk factors of dementia in epilepsy. At a pre-conference event, DSUK was pleased to see that the Dravet Syndrome Foundation announced that their biggest grant award has been awarded to a prospective study of adults living with Dravet Syndrome, led by Dr Danielle Andrade.
Overall, the focus on adults with epilepsy looked at the general link between epilepsy and ageing, a timely topic given the current conversations in Dravet Syndrome. However, the lack of information on DEE-specific ageing was clear, and the call for longitudinal and thorough studies was highlighted. There was also a clear call to action to better support adult neurologists to perform genetic testing in adults, to actionably manage the condition.
Impact on the Whole Family
The conference touched upon how the burden of caring for someone with a DEE impacts physical, mental, and social wellbeing, causing quality of life to reduce. Presentations highlighted that different aspects of seizures in early life, including seizure frequency, severity, and unpredictability, have both short- and long-term impacts on caregiver mental health. Throughout the conference, speakers promoted the importance of shared decision-making and patient-centred care.
One of the most powerful sessions featured a panel of parents alongside a documentary-style video showing the experiences of families who have been living with Dravet Syndrome across different generations. Despite their varied experiences and the changing landscape of treatment over time, the panel discussion and video revealed common themes about the profound impact on family life.
Despite the impact on the family being mentioned, it was clear this concept is still early in its adoption in clinical practice. The focus was on raising awareness of the impact on caregivers, not providing actionable information, so it is clear that evidence-based information is needed to properly advocate for better support.
Updates from the SCN1A Horizon’s Natural History Study
The first official updates from the SCN1A Horizon’s Natural History study were shared in the form of two posters; Adriana Swindler shared valuable insights on barriers and lessons learned from using standardised developmental tests in people living with Dravet Syndrome, whilst Dr Alex Harper presented baseline data on first seizure presentation, comorbidities, and medication use. Huge congratulations to Dr Harper on winning the Jack M Pellock Paediatric Travel Award which recognises the best paediatric paper submitted to the meeting!
This important study is helping us better understand Dravet Syndrome presentation and progressions, and should improve care for our community. We look forward to receiving more insights over the next few years.
News from ongoing clinical trials for treatment of Dravet Syndrome:
- Encoded Therapeutics shared initial data from the phase 1/2 trial of ETX-101, a disease-modifying treatment for Dravet Syndrome. Importantly in these first-in-human trials, there were no treatment-related serious side effects and ETX-101 was well tolerated at all dose levels. Although small in numbers of patients, data from the first 3 dose levels show a 78% median reduction in monthly countable seizure frequency, and clinically meaningful neurodevelopmental gains. The rate of cognitive development represents a difference when compared to the progression seen in the ENVISION natural history study.
- Stoke Therapeutics shared new data from the open-label extension of the phase 1/2 trial of Zorevunersen, a disease-modifying therapy for Dravet Syndrome. Analysis demonstrated durable seizure reductions, including increases in seizure-free days, as well as improvements in cognition, behaviour, and quality of life when compared to age-matched BUTTERFLY natural history data.
- Lundbeck shared new, long-term data from the open-label extension of the phase 2 trial of Bexicaserin for the treatment of seizures in developmental and epileptic encephalopathy (including Dravet Syndrome). A median reduction in countable motor seizures of 60.2% at 18 months, and 53.7% at 24 months on treatment was seen. No new safety concerns were observed.
- Harmony Biosciences shared data from the open label extension of the phase 3 clinical trial of EPX-100, an anti-seizure medication for Dravet Syndrome. A median reduction of approximately 50% in countable motor seizure frequency per 28 days was seen, and EPX-100 was generally well tolerated.
Key takeaways
Seeing DEEs and their many challenges featured so prominently in the presidential symposium shows that these conditions are receiving the attention they deserve. Whilst each condition may be rare individually, DEEs collectively affect about 20% of people living with epilepsy. One of the most encouraging aspects of the conference was seeing that the presidential symposium dedicated significant time to discussing how these conditions affect development and daily life beyond just seizures.
At my first AES ten years ago, few people had heard of Dravet Syndrome. It's encouraging to see it has now become such a prominent topic at this major conference. What's truly exciting is that we're approaching a future where we can directly address the underlying cause of Dravet Syndrome for the next generation.Galia Wilson, Chair of Trustees for Dravet Syndrome UK
It was encouraging to see that DSUK’s focus areas, challenges beyond seizures, adults with Dravet Syndrome, and family impact, were discussed at the conference. However, it’s also clear there is still much work to be done to properly understand these aspects of Dravet Syndrome. AES highlighted both the progress being made and the gaps that remain; gaps that future research must address to improve the lives of people with Dravet Syndrome and their families.