Article
SCN10A Mutation in a Patient with Erythromelalgia Enhances C-Fiber Activity Dependent Slowing.
PloS one - 1 Jan 2016
Kist Andreas M, Sagafos Dagrun, Rush Anthony M, Neacsu Cristian, Eberhardt Esther, Schmidt Roland, Lunden Lars Kristian, Ørstavik Kristin, Kaluza Luisa, Meents Jannis, Zhang Zhiping, Carr Thomas Hedley, Salter Hugh, Malinowsky David, Wollberg Patrik, Krupp Johannes, Kleggetveit Inge Petter, Schmelz Martin, Jørum Ellen, Lampert Angelika, Namer Barbara
Abstract excerpt
Gain-of-function mutations in the tetrodotoxin (TTX) sensitive voltage-gated sodium channel (Nav) Nav1.7 have been identified as a key mechanism underlying chronic pain in inherited erythromelalgia. Mutations in TTX resistant channels, such as Nav1.8 or Nav1.9, were recently connected with inheri...
Topics
- Action Potentials
- Electric Stimulation
- Erythromelalgia
- Ganglia, Spinal
- Humans
- Male
- Middle Aged
- Mutation
- NAV1.8 Voltage-Gated Sodium Channel
- Nerve Fibers, Unmyelinated