September 2026 Research Update

This month added more real-world information on seizure medicines used in Dravet syndrome, with a consistent message that many people experience fewer seizures over time, but not everyone responds and side effects can limit use. Across these studies, cannabidiol (CBD) was commonly associated with meaningful seizure reduction in both adults and children in routine care. A separate cohort comparing fenfluramine and stiripentol regimens reported lower seizure burden in people on fenfluramine-containing regimens at follow-up, while effects on thinking, behavior, and movement were less clear in that dataset. [1] [2] [3]

In an adult group with histories that included Dravet syndrome, CBD use for at least 12 months was accompanied by a 50% or greater seizure reduction in about half of patients at both 6 and 12 months, and many stayed on treatment through 1 year. Caregivers also reported cognitive-behavioral improvements for some people, and the average number of other seizure medicines was reduced by about 1 medication over time. Side effects were common but usually described as mild, although some people stopped CBD because of side effects such as sleepiness or stomach-related symptoms. [1]

In a pediatric epilepsy clinic population that included children with Dravet syndrome, CBD responder rates (50% or greater seizure reduction) were similar between those with FDA-labeled indications (including Dravet) and those with other epilepsy diagnoses. Reported side effects in this chart review included stomach upset, agitation, insomnia, and weight loss, and drooling/extra secretions were only observed when clobazam was also used. This helps put CBD use into a broader routine-care context, while still not proving how much of the change is due to CBD itself. [2]

In a single-center Dravet cohort comparing treatment regimens, fenfluramine-containing regimens were linked with a lower seizure burden at last follow-up compared with other antiseizure medication approaches, even after adjustment for age and disease duration. The same study did not find clearly different rates of cognitive or neuropsychiatric outcomes across treatment groups, and the group taking both fenfluramine and stiripentol was too small to judge whether combining them adds benefit. Some regimen changes were driven by adverse events, showing that tolerability can shape which combinations people can stay on. [3]

For patients and caregivers, these studies mainly add practical, real-world context about what has been seen in clinics over months to years, rather than providing definitive proof that one medicine works better than another. The CBD studies support the idea that many people can have substantial seizure reductions and remain on CBD long-term, while also highlighting that side effects are frequent and can lead some people to stop. The fenfluramine versus stiripentol comparison adds to evidence that fenfluramine-containing regimens may be linked with a lower seizure burden in practice, but it is less clear from this dataset whether this also changes long-term learning, behavior, or movement challenges. Because these were retrospective observations without randomized comparisons, they help set expectations for what has been reported, but they cannot tell any individual family what will happen for them. [1] [2] [3]

This month included animal studies that tested how well different approaches reduce seizures in Dravet syndrome mouse models, with results that were encouraging for some drugs and not for others. Two separate mouse-model studies reported reduced seizures under heat-triggered conditions, and one also reported reduced spontaneous seizures. Together, these studies strengthen the usefulness of Dravet mouse models for screening ideas, while keeping the focus on early-stage results that do not predict patient outcomes. [4] [5]

In a Dravet mouse model using a controlled warming setup, clobazam and valproate reduced the chance of heat-triggered seizures and delayed when seizures started, while lamotrigine did not show protection in this test. Valproate also lowered body temperature before and after heating, which may matter for interpreting why seizures changed in this model. The researchers presented the warming setup as a way to screen seizure medicines under standardized conditions. [4]

In another Dravet mouse model study, Kv3.1 (a protein important for fast signaling in certain brain cells) was reduced in the cortex after seizures, including within PV+ interneurons, and its location in cells looked abnormal. When the researchers used AUT1 to activate Kv3.1, seizures were reduced across several tests, including heat-triggered seizures and spontaneous seizures. This connects a measurable brain change after seizures with a possible way to counter it, but only within an animal model. [5]

For families, these results are mainly research steps that may matter later if they lead to treatments proven in people. The animal findings are consistent with clobazam and valproate reducing heat-triggered seizures in a Dravet model, and they also raise interest in Kv3.1 activation (AUT1) as a possible future direction. At the same time, these studies cannot tell whether a child or adult with Dravet will have the same benefit, or what side effects might occur in people, because the work was done in mice. What this month clarifies is which ideas look promising enough in the lab to justify more testing, and which ideas (like lamotrigine in this heat-triggered model) did not look helpful in that specific setting. [4] [5]

This month broadened the picture beyond seizures by focusing on how Dravet syndrome affects daily life and how those effects might be measured or recognized. Caregivers prioritized areas like behavior and independence, and a prototype home-based app was judged feasible enough to refine for future studies. Small clinical reports also underscored that communication delays are common and variable, and they described a rare but serious respiratory course in two children during acute illnesses. [6] [7] [8]

In a caregiver cocreation project in Spain, families identified neuropsychiatric symptoms, independence in daily activities, and social participation as high-priority outcomes to track, not just seizure counts. Caregivers were generally willing to use digital tools, and the group feedback supported using simplified diaries and short video-based tasks at home, while also noting practical challenges like video recording and questionnaire burden. The work did not test whether the measures predict health changes yet, but it mapped what families most want captured in future trials. [6]

A small Spanish-language case series of six children described broad developmental delays with wide differences between children, and it suggested expressive language (speaking) was often more affected than receptive language (understanding). Parent reports and direct testing were both used, with the idea that combining perspectives can better reflect day-to-day communication. Because this was a small descriptive series, it does not define what will happen for any one child, but it adds concrete examples of how variable communication skills can be in Dravet syndrome. [7]

A separate report of two children described repeated episodes of severe acute respiratory distress syndrome (ARDS) during febrile illness or status epilepticus, including episodes where lung failure occurred even without ongoing seizures. One child required repeated intensive life support with veno-venous ECMO, and neither had known chronic lung disease beforehand. This kind of report cannot show how common the problem is, but it raises awareness that some individuals with Dravet may have vulnerabilities outside the brain during severe illnesses. [8]

For patients and caregivers, this set of studies matters most for understanding and measuring the parts of Dravet syndrome that families live with every day, even when seizures are being treated. The caregiver-led digital work may matter in the future by improving how studies measure behavior, independence, and participation at home, but it is not yet a validated tool. The language case series reinforces that communication challenges can be substantial and uneven across children, which can help families feel less alone in the variability they see. The ARDS case series is early and rare evidence, but it clarifies that some severe respiratory crises have been reported during acute illnesses in Dravet syndrome, and more research is needed to know who is at risk and why. [6] [7] [8]

This month included one genetic study that strengthens how certain SCN1A changes can be judged as disease-causing, even when the change is not in the main protein-coding part of the gene. In a single Chinese family with GEFS+ that included children diagnosed with Dravet syndrome, researchers showed the variant disrupted how the SCN1A message is assembled (splicing). They then classified the variant as likely pathogenic using standard criteria, adding one more validated example for genetic interpretation. [9]

The study used a lab-based splicing test (a minigene assay) to show that the SCN1A c.4476+5G>T change altered the transcript by removing small sections from exons, which would be expected to disrupt the resulting protein. This kind of functional evidence can be especially helpful when a DNA change is in an intron, where its impact is not obvious from the DNA sequence alone. Because it was one family, it mainly adds depth to genetic understanding rather than describing a broad pattern across many patients. [9]

For families, this finding matters most at the level of diagnosis and family genetics, rather than day-to-day symptom management. It shows how an intronic SCN1A variant can still disrupt gene function, which can support clearer genetic answers in some families when a variant is found. What remains uncertain is how often this exact variant occurs outside this family and whether people with the same variant always have similar symptoms. This is not a treatment study, but it adds confidence to how some SCN1A results can be interpreted when functional testing is available. [9]