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A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy

  • Mark Estacion
  • , Janelle E. O'Brien
  • , Allison Conravey
  • , Michael F. Hammer
  • , Stephen G. Waxman
  • , Sulayman D. Dib-Hajj
  • , Miriam H. Meisler

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Neuroscience

Biochemistry, Genetics and Molecular Biology