- 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
- Website: https://www.thecutesyndrome.com/