For decades, epilepsy treatment followed a trial-and-error model: after diagnosis, doctors chose an anti-epileptic drug based on seizure type, and if it failed, they tried another. That approach helps many patients, but for others, especially children with severe epilepsy, it can mean years of repeated seizures, uncertainty, and damage to development and quality of life. Epilepsy affects about 1% of the population, and roughly one-third of patients still have seizures despite optimal drug therapy.
The article says advances in genome sequencing have changed the field. In many cases, especially when epilepsy begins in early childhood, the cause is now found to be a genetic change that affects brain cell activity. Genetic testing is increasingly considered for children with early-onset epilepsy, drug resistance, developmental delay or intellectual disability, additional findings outside the nervous system, or a relevant family history. The test often does more than explain the condition, it can alter treatment.
Examples include Dravet syndrome, caused by an SCN1A mutation, where early diagnosis helps doctors avoid sodium-channel blocking drugs that may worsen seizures. In GLUT1 deficiency, which impairs glucose transport to the brain, the diagnosis points to a ketogenic diet, which can improve seizure control and functioning. Tuberous sclerosis complex, or TSC, is another major example. Understanding its molecular basis showed that the mTOR pathway is overactive, leading to targeted drugs such as everolimus that can reduce seizures and shrink brain and kidney tumors.
Newer approaches are moving even further toward precision medicine. Antisense oligonucleotides, or ASOs, are synthetic RNA molecules designed for specific genes that can boost, reduce, or correct protein production, and researchers are now exploring N-of-1 treatments for a single child with a unique mutation. Gene therapy using engineered viral vectors, usually AAV, is also in clinical trials for Dravet syndrome and other severe childhood epilepsies, although delivery to many brain cells, long-term effectiveness, and immune reactions remain challenges. The article concludes that not every genetic epilepsy has a treatment yet, the therapies are expensive and slow to reach patients, and delays in genetic workup can block access to targeted care, trials, and counseling. On 23 June, the annual conference of Il, the Israeli Epilepsy Association, will be held with the League for Epilepsy Prevention.
