SCN1A
Summary
- SCN1A (sodium voltage-gated channel alpha subunit 1) is a gene responsible for providing instructions for making sodium channels that assist in generating and transmitting electrical signals.
- The SCN1A gene is associated with mild to severe epilepsy, usually beginning during infancy.
- Changes in the SCN1A gene can either be de novo (new in the person with epilepsy and not inherited from a parent) or be inherited from a parent with GEFS+ or a family history of GEFS+.
- Diagnosis for SCN1A epilepsy will require genetic testing.
SCN1A developmental and epileptic encephalopathies include:
- Dravet syndrome
- Early-infantile SCN1A encephalopathy
- Epilepsy of infancy with migrating focal seizures (EIMFS)
- Epilepsy with myoclonic-atonic seizures (EMAtS)
- Genetic epilepsy with febrile seizures plus (GEFS+)
- Febrile seizures
Contacts and information
- Website: https://dravetfoundation.org/