Dravet syndrome is a serious brain condition that causes frequent seizures, usually starting in babies. Most cases happen because of a tiny change in a specific gene, but some cases involve a larger missing piece of DNA. Researchers studied 5 children with this rare genetic variation to see which seizure medicines actually helped them. They found that three medicines—valproic acid, clobazam, and cannabidiol—seemed to work well for these patients. This small study gives doctors new information about treating this severe form of epilepsy when the genetic cause is different from typical cases.

The Quick Take

  • What they studied: Which seizure medicines work best for children with Dravet syndrome caused by a specific genetic deletion (missing piece of DNA on chromosome 2q24.3)
  • Who participated: 5 children with Dravet syndrome who all had the same rare genetic change—a missing section of DNA that affects multiple genes controlling how nerve cells communicate
  • Key finding: Three seizure medicines (valproic acid, clobazam, and cannabidiol) appeared to help reduce seizures in these patients, while two other common medicines (levetiracetam and phenobarbital) did not seem effective
  • What it means for you: If your child has this rare form of Dravet syndrome, doctors now have better information about which medicines to try first. However, because this study only included 5 children, more research is needed before making treatment decisions. Always work with your child’s neurologist to find the best treatment plan.

The Research Details

This was a case series, which means researchers looked at a small group of patients (5 children) who all had the same rare genetic condition and documented how they responded to different seizure medicines. The researchers reviewed medical records and treatment histories to see which medicines seemed to help reduce seizures and which ones didn’t work well. They didn’t do a controlled experiment with a comparison group; instead, they carefully described what happened with each child’s treatment over time.

This type of study is useful when dealing with very rare conditions because it’s hard to find enough patients for a larger study. The researchers were trying to fill a gap in medical knowledge—doctors didn’t have clear guidelines about which medicines work best for this specific genetic variation of Dravet syndrome.

Dravet syndrome is already a difficult condition to treat, and this rare genetic variation (2q24.3 deletion) may be even harder to manage because it affects multiple genes at once, not just one. By studying how these specific patients responded to different medicines, doctors can learn which treatments are worth trying first. This helps families avoid wasting time on medicines that won’t work and get their children on effective treatment faster.

This study has important limitations to understand: it’s very small (only 5 patients), so the results might not apply to all children with this condition. There’s no comparison group to measure against, and the researchers relied on medical records rather than conducting a controlled experiment. The study was published in a respected medical journal, which means experts reviewed it, but the small size means we should be cautious about generalizing the findings. More research with larger groups of patients is definitely needed.

What the Results Show

The researchers found that three seizure medicines appeared to help the children in this study: valproic acid, clobazam, and cannabidiol all showed signs of reducing seizures. These medicines work in different ways—some affect how sodium moves in nerve cells, while cannabidiol works through different brain pathways. The fact that all three helped suggests there may be multiple effective approaches for this genetic variation.

In contrast, two other commonly used seizure medicines—levetiracetam and phenobarbital—did not appear to help these patients. This is important information because it suggests doctors should consider trying the three effective medicines first rather than starting with medicines that didn’t work in this group.

The researchers also noted that two other treatments (fenfluramine and the ketogenic diet) might be helpful but need more study. These findings are preliminary because the group was so small, but they provide a starting point for doctors treating children with this rare genetic form of Dravet syndrome.

The study suggests that children with this specific genetic deletion (affecting multiple sodium channel genes at once) may respond differently to medicines than children with the more common form of Dravet syndrome. This indicates that the genetic cause of the seizures matters when choosing treatment. The researchers noted that larger deletions affecting multiple genes seemed to create more severe seizure patterns, which might explain why standard treatment recommendations don’t always work.

Previous research showed that larger deletions in this region of chromosome 2 were associated with more severe seizures, but there were no clear treatment guidelines for these patients. This study is one of the first to specifically examine which medicines work for this genetic variation. The findings align with what doctors know about how these medicines work at the cellular level, but they add new practical information about real-world effectiveness in this rare subgroup.

The biggest limitation is the very small sample size—5 children is not enough to make definitive conclusions. Individual children respond differently to medicines, so what worked for these 5 patients might not work for all children with this condition. The study relied on reviewing medical records rather than conducting a controlled experiment where some children received the medicine and others received a placebo. There’s no information about how long the benefits lasted or whether the medicines continued to work over time. Additionally, the study didn’t examine side effects in detail, which is important when choosing seizure medicines.

The Bottom Line

If your child has Dravet syndrome with this specific genetic deletion (2q24.3 deletion affecting multiple sodium channel genes), discuss with your neurologist whether trying valproic acid, clobazam, or cannabidiol makes sense as initial treatments. These medicines showed promise in this small study. Avoid starting with levetiracetam or phenobarbital based on this evidence, as they didn’t help the patients studied. Consider asking your doctor about fenfluramine and the ketogenic diet as additional options. Confidence level: Low to moderate, because this is based on only 5 patients, but it’s the best available evidence for this rare genetic variation.

This research is most relevant for families with children who have Dravet syndrome caused specifically by a 2q24.3 deletion. If your child has Dravet syndrome from a different genetic cause, these findings may not apply directly, though some treatments might still help. Neurologists treating rare seizure disorders should be aware of these findings. Parents and caregivers of children with this condition should discuss this research with their medical team. This research is less relevant for people with other types of epilepsy.

Seizure medicines typically show whether they’re working within 2-4 weeks, though some effects take longer to appear. You should see some improvement in seizure frequency or severity within the first month if a medicine is going to help. However, finding the right medicine or combination of medicines can take several months of careful adjustment and monitoring.

Want to Apply This Research?

  • Track daily seizure count, duration, and severity for each medicine tried. Record the date started, dosage, and any side effects observed. This creates a clear record to share with your neurologist about what’s working.
  • Set medication reminders at the same time each day to ensure consistent dosing. Use the app to log when doses are taken and note any seizure activity in the hours following medication. This helps identify patterns in how well each medicine works.
  • Maintain a 3-month rolling log of seizure patterns for each medicine. Compare seizure frequency month-to-month to objectively measure improvement. Share this data with your neurologist at each visit to guide treatment adjustments.

This research describes treatment responses in only 5 children with a rare genetic form of Dravet syndrome. These findings should not be used to make treatment decisions without consulting your child’s neurologist. Seizure medicines can have serious side effects and require careful medical supervision. The effectiveness of treatments varies greatly between individuals. This study is preliminary and larger studies are needed to confirm these findings. Always work with your medical team to develop an individualized treatment plan based on your child’s specific condition, medical history, and needs.