Research Explained: Genetic aetiologies in relation to response to the ketogenic diet in 226 children with epilepsy
Authors: Maria Dahlin, Tommy Stödberg, Elin Ekman, Virpi Töhönen, and Anna Wedell
Written by: Gabrielle Rushing, PhD, Chief Scientific Officer, CSNK2A1 Foundation
Link to Publication: https://pmc.ncbi.nlm.nih.gov/articles/PMC12022961/
Research Explained Summary
This study explored how children with different genetic diagnoses responded to the ketogenic diet. The ketogenic diet is a special high-fat, low-carbohydrate eating plan that changes the way your body gets energy. Instead of using sugar from carbs, your body starts using fat for fuel, which can help reduce seizures in some people with epilepsy.
Out of 226 children in the study, only one had a pathogenic (disease-causing) variant in CSNK2A1—the gene associated with Okur-Chung Neurodevelopmental Syndrome (OCNDS). This individual carried the p.S194F variant, located in the activation segment of the CK2 protein—the same region where the most common OCNDS variant, p.K198R, is found. Remarkably, this child became completely seizure-free just three months after starting the ketogenic diet.
Although this is only a single case, it offers real hope and raises important questions: Could dietary therapies like the ketogenic diet benefit others with OCNDS-related epilepsy? Are there specific features of CSNK2A1 that make individuals more responsive to metabolic treatments?
The study as a whole found that responses to the ketogenic diet varied depending on the gene involved. Some mutations were associated with better outcomes than others. The positive result in the child with CSNK2A1 reinforces why it’s essential to include individuals with rare diseases in clinical research and to document single-patient outcomes that might otherwise be overlooked.
If your child with OCNDS has epilepsy and you’re considering the ketogenic diet, this study might be a conversation starter with your neurologist. As always, decisions about treatment should be made with your healthcare team—but we’re here to help empower those discussions with the best science available.