SCN8A

Summary

SCN8A (sodium voltage-gated channel alpha subunit 8) is a gene responsible for making sodium channels which play a role in the brain for generating and transmitting electrical signals.
Changes in the SCN8A gene can either be de novo (new in the person with epilepsy and not inherited from a parent) or be inherited from a parent.
Changes in SCN8A cause developmental and epileptic encephalopathy with seizure onset in infancy and intellectual disability.
Movement conditions, poor muscle coordination and symptoms associated with Autism spectrum disorder (ASD) are linked with SCN8A.
Diagnosis for SCN8A epilepsy will require genetic testing.

Contacts and information