Characterization of novel SCN3A-related neurodevelopmental disorder


  • SCN3A mutations are associated with cortical developmental malformation, which presents as a severe neurodevelopmental disorder with epilepsy.

Why this matters

  • Voltage-gated sodium channels are important to the generation and propagation of action potentials in the brain.

  • Mutations in SCN3A, which encodes a type III voltage gated sodium channel, have been associated with developmental epileptic encephalography (DEE) and diffuse polymicrogyria.

  • A large-scale characterization of patients with SCN3A mutations is lacking.