Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot

Neurogenetics. 2017 Jul;18(3):179-181. doi: 10.1007/s10048-017-0513-9. Epub 2017 Mar 13.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Gain of Function Mutation
  • Heterozygote
  • Humans
  • Infant
  • Male
  • Membrane Potentials / genetics
  • Mice
  • Mice, Mutant Strains
  • NAV1.9 Voltage-Gated Sodium Channel / chemistry
  • NAV1.9 Voltage-Gated Sodium Channel / genetics
  • NAV1.9 Voltage-Gated Sodium Channel / metabolism
  • Pain Insensitivity, Congenital / genetics*
  • Pain Insensitivity, Congenital / metabolism
  • Protein Domains

Substances

  • NAV1.9 Voltage-Gated Sodium Channel
  • SCN11A protein, human
  • Scn11a protein, mouse