Researchers discovered that a special high-fat, low-carb diet called the ketogenic diet may help children with a rare genetic form of epilepsy that doesn’t respond to regular medicines. They studied a 4-year-old boy whose seizures dropped by more than 90% after following this diet. By examining his blood cells, scientists found that the diet helped fix problems in how his genes were being controlled. This discovery suggests that the ketogenic diet might work differently than doctors thought—not just by changing how the brain uses energy, but by actually helping genes work better.

The Quick Take

  • What they studied: Whether a ketogenic diet (high fat, very low carbs) could help a young child with a rare genetic seizure disorder that didn’t respond to standard seizure medications
  • Who participated: One 4-year-old boy with SETD1B-related epilepsy whose seizures couldn’t be controlled with conventional drugs, plus comparison samples from his own body at different time points and a healthy child of similar age
  • Key finding: The boy’s seizures decreased by more than 90% after starting the Modified Atkins ketogenic diet, and his blood cells showed that the diet helped fix broken gene-control systems that were causing problems
  • What it means for you: This case suggests the ketogenic diet might help some children with rare genetic seizure disorders, but this is very early research based on one patient. Parents should only try this diet under close medical supervision, as it requires careful planning and monitoring.

The Research Details

This is a case report, which means doctors carefully documented what happened to one specific patient over time. The researchers followed a 4-year-old boy who had a rare genetic condition called SETD1B-related epilepsy, which caused frequent seizures that didn’t stop with regular seizure medicines. They put him on a modified ketogenic diet (a diet very high in fats and very low in carbohydrates) and tracked how many seizures he had. They also took blood samples at three different times: before starting the diet, after 3 months on the diet, and compared them to blood from a healthy child of similar age.

The researchers used advanced technology called single-cell RNA sequencing to look at over 25,000 individual cells from the blood samples. This technology lets scientists see exactly which genes are turned on or off in each cell. They were looking for changes in how the genes were being controlled—specifically in systems that manage chromatin (the way DNA is packaged), ribosomes (protein-making factories in cells), immune function, and mitochondria (the energy centers of cells).

This research approach is important because it goes beyond just counting seizures—it actually shows what’s happening inside the cells at a molecular level. By comparing the patient’s cells before and after treatment, and against a healthy control, the researchers could see whether the diet was actually fixing the underlying genetic problem, not just masking the symptoms. This type of detailed cellular analysis helps explain how and why a treatment works, which is crucial for understanding whether it might help other patients with similar conditions.

This is a single case report, which is the lowest level of scientific evidence. While the findings are interesting and the technology used is sophisticated, one patient is not enough to prove the diet works for all children with this condition. The study does have strengths: the researchers used cutting-edge genetic technology, they had a clear before-and-after comparison, and they included a healthy control for comparison. However, we cannot know if the diet would work for other children, whether the improvement would last long-term, or if other factors besides the diet contributed to the seizure reduction.

What the Results Show

The most striking result was that the boy’s seizures dropped by more than 90% after starting the Modified Atkins ketogenic diet. This is significant because his seizures had not responded to multiple standard seizure medications, making this a major improvement in his quality of life.

When scientists examined his blood cells, they found that before the diet, many of his genes were not working properly. Specifically, they found problems in four main systems: chromatin regulation (how DNA is packaged and accessed), ribosomal function (how cells make proteins), immune function (how cells fight infection), and mitochondrial function (how cells produce energy). These problems are likely related to his SETD1B genetic mutation, which affects how genes are controlled.

After three months on the ketogenic diet, the same blood cells showed dramatic improvements. The dysregulated genes started working more normally, and the four broken systems began to function better. This suggests that the diet was actually fixing the underlying genetic problem at the cellular level, not just reducing seizures through some other mechanism.

The researchers found that the ketogenic diet appears to work by increasing ketone bodies (special molecules the body makes when it burns fat instead of carbohydrates). These ketone bodies, particularly one called butyrate, act as natural gene-control enhancers. They help ’turn on’ genes that should be active and ’turn off’ genes that should be quiet. This is different from how doctors previously thought the ketogenic diet worked for seizures. The study suggests the diet may be helping at a much deeper level—actually correcting the genetic control problems caused by the SETD1B mutation.

The ketogenic diet has been used for seizure disorders for over 100 years, but doctors have mainly understood it as working by changing how the brain uses energy. This study adds a new understanding: the diet may also work by fixing how genes are controlled. This is particularly important for genetic seizure disorders like SETD1B-related epilepsy, where the root problem is faulty gene regulation. Previous research has shown that ketone bodies can affect gene control, but this is one of the first studies showing this effect in a real patient with a genetic seizure disorder.

This study has several important limitations. First, it involves only one patient, so we cannot know if the diet would work for other children with SETD1B mutations or similar conditions. Second, we don’t know how long the improvement will last—the study only followed the patient for 3 months. Third, we cannot be completely certain the diet caused the improvement; other factors like the child getting older or unknown environmental changes could have contributed. Fourth, the study doesn’t tell us whether the diet would work for children with different genetic mutations that affect gene control. Finally, the Modified Atkins diet requires careful medical supervision and is not appropriate for all children, so more research is needed before it could be recommended more broadly.

The Bottom Line

Based on this single case, the ketogenic diet appears promising for SETD1B-related epilepsy that doesn’t respond to standard medicines (moderate confidence, based on one case). However, this diet should only be attempted under close supervision by a neurologist and dietitian experienced in ketogenic therapy. The diet requires careful planning to ensure proper nutrition and regular monitoring of blood work. Parents should not attempt this diet on their own without medical guidance.

This finding is most relevant to families with children who have SETD1B-related epilepsy or similar genetic seizure disorders that don’t respond to standard medications. It may also be of interest to researchers studying other genetic conditions involving gene-control problems. People with common types of epilepsy should not assume this diet will help them without consulting their doctor. Pregnant women, people with certain metabolic disorders, and those taking specific medications should not follow a ketogenic diet without medical approval.

In this case, the boy showed significant seizure reduction within 3 months of starting the diet. However, we don’t know if this is typical—some patients might improve faster or slower. Long-term benefits and safety would need to be monitored over months and years. Any family considering this approach should expect a gradual adjustment period and work closely with their medical team.

Want to Apply This Research?

  • Track daily seizure count and type, diet adherence (percentage of meals following Modified Atkins guidelines), and weekly blood ketone levels if available. Record any side effects or changes in energy, mood, or school performance.
  • Work with a dietitian to plan meals that are high in healthy fats (like avocados, nuts, olive oil) and very low in carbohydrates. Use the app to log meals, get reminders for medical appointments, and share seizure data with your healthcare team.
  • Monthly check-ins with your neurologist and dietitian to review seizure logs, blood work results, and nutritional status. Track trends over 3-6 months to see if the diet is helping. Monitor for side effects like kidney stones, nutrient deficiencies, or changes in growth (important in children).

This research describes a single case and should not be considered proof that the ketogenic diet works for all children with SETD1B-related epilepsy or other seizure disorders. The ketogenic diet is a medical treatment that requires close supervision by qualified healthcare providers including a neurologist and registered dietitian. Do not start a ketogenic diet without explicit approval and ongoing monitoring from your child’s medical team. This diet can have serious side effects and nutritional risks, especially in children. Always consult with your healthcare provider before making any changes to seizure medications or starting any new treatment. This summary is for educational purposes only and does not replace professional medical advice.