Parental germline mosaicism in SCN3A-related severe developmental disorder

Brain Dev. 2021 May;43(5):669-670. doi: 10.1016/j.braindev.2020.12.013. Epub 2021 Jan 22.
No abstract available

Publication types

  • Letter

MeSH terms

  • Brain Diseases / diagnosis
  • Brain Diseases / genetics*
  • Child
  • Child, Preschool
  • Germ-Line Mutation
  • Humans
  • Infant
  • Male
  • Mosaicism*
  • NAV1.3 Voltage-Gated Sodium Channel / genetics*
  • Neurodevelopmental Disorders / diagnosis
  • Neurodevelopmental Disorders / genetics*
  • Pedigree
  • Sodium Channels / genetics*

Substances

  • NAV1.3 Voltage-Gated Sodium Channel
  • SCN3A protein, human
  • Sodium Channels