Maternal germinal mosaicism for SCN1A in sibs with a mild form of Dravet syndrome

Am J Med Genet A. 2015 May;167A(5):1165-7. doi: 10.1002/ajmg.a.36990.
No abstract available

MeSH terms

  • Child
  • Epilepsies, Myoclonic / genetics*
  • Epilepsies, Myoclonic / physiopathology
  • Female
  • Humans
  • Male
  • Mosaicism*
  • NAV1.1 Voltage-Gated Sodium Channel / genetics*
  • Siblings

Substances

  • NAV1.1 Voltage-Gated Sodium Channel
  • SCN1A protein, human