SCN2A
Summary
- SCN2A (sodium voltage-gated channel alpha subunit 2) is a gene partly responsible for controlling the excitability of neurons in the brain.
- The SCN2A gene has mostly been linked with early-onset epilepsies, including:
SCN2A developmental and epileptic encephalopathies, including epilepsy of infancy with migrating focal seizures (EIMFS) and early infantile DEE (EIDEE).
Self-limited neonatal-infantile epilepsy; seizures that usually begin in the first months of life spontaneously stop within the first year of life with no impact on development. Some children may start having seizures again in childhood or adulthood.
- Changes in the SCN2A gene can either be de novo (new in the person with epilepsy and not inherited from a parent) or be inherited from a parent.
- Autism spectrum disorder (ASD), other neurological conditions and gastrointestinal issues have been associated with changes in SCN2A.
Contacts and information
- Website: scn2aaustralia.org
- Facebook: https://www.facebook.com/SCN2AAsiaPacific/
- Email: Info@scn2aaustralia.org
- Resource: SCN2A Asia-Pacific information sheet
- Twitter: @scn2aaustralia