Gene Therapy Enables Teen With Rare Epilepsy to Walk
Researchers at UC San Diego and Rady Children's Institute have successfully treated two children with rare SCN2A-related epilepsy using personalized gene therapy. The treatment, involving allele-selective antisense oligonucleotides, significantly reduced seizure frequency and improved developmental outcomes.
Why it matters
This demonstrates the potential for 'n-of-1' personalized medicine to treat rare genetic disorders that are unresponsive to traditional pharmaceuticals.
SCN2A‑related developmental epileptic encephalopathy (DEE) is a rare, severe form of childhood epilepsy and one of the most common causes of monogenic autism. The condition is caused by single mutations to the sodium voltage-gated channel alpha subunit (SCN2A) gene, which controls the flow of sodium ions into neurons. These mutations promote abnormal brain excitability, resulting in uncontrolled seizures along with developmental delays, autism, movement problems and gastrointestinal issues. Most of these mutations are de novo (not inherited from a parent), and arise spontaneously.
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