SCN8A 

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  

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