SCN1A

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 

 

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