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.