Personalized gene therapy helps teen with rare form of severe epilepsy walk independently

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 in 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. ...