SAN DIEGO — An experimental treatment designed around a teenager’s specific genetic mutation sharply reduced his seizures and helped him walk independently for the first time, according to research published in Nature Medicine.
The teenager was one of two children treated for SCN2A-related developmental epileptic encephalopathy, a rare and severe form of childhood epilepsy. Mutations in the SCN2A gene can disrupt electrical signaling in the brain, causing frequent seizures, developmental delays, movement problems, autism-related behaviors and gastrointestinal difficulties.
Researchers created individualized antisense oligonucleotides, short synthetic pieces of genetic material designed to silence the disease-causing copy of the gene while leaving the healthy copy functioning. The treatments were injected into spinal fluid under anesthesia every two to three months.
Over two years, the patient who began the trial at age 14 had a 90% reduction in seizure frequency and later walked without assistance at age 15. A second patient, who began treatment at age 9, had a 26% reduction in seizures. Both children reduced or stopped some anti-seizure medications and showed gains in language, movement, sensory processing and daily living skills.
No serious treatment-related adverse events were reported, but the therapy remains investigational. Because it changes gene expression rather than permanently editing DNA, repeat doses are required. Researchers said the two-person study is an early demonstration, not proof that the approach will work broadly, and larger studies will be needed to establish safety and effectiveness.
Sources: UC San Diego, Nature Medicine and Smithsonian Magazine. Published July 21, 2026.
