Two Children With a Rare Epilepsy Mutation Show Improvement After Personalized Genetic Treatment

Personalized genetic therapy helped researchers treat two children with a rare form of epilepsy, enabling one to walk independently for the first time.

Two children who have had to endure seizures for most of their lives are now seeing significant improvement thanks to a personalized genetic medicine treatment. The 9-year-old and 14-year-old were both diagnosed with SCN2A-related developmental epileptic encephalopathy, a rare form of childhood epilepsy, from a young age.

The genetic mutation that causes the condition, a new study published in Nature Medicine shows, can effectively be suppressed with short, synthetic pieces of DNA that are designed to degrade the mutant copy of the SCN2A gene that promotes epilepsy. Following clinical trials involving this personalized gene therapy, the two children have seen major health improvements. The treatment has even helped the 14-year-old patient walk independently for the first time in his life.

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