Article
NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 22 Oct 2008
Estacion M, Dib-Hajj S D, Benke P J, Te Morsche Rene H M, Eastman E M, Macala L J, Drenth J P H, Waxman S G
Abstract excerpt
Gain-of-function mutations of Na(V)1.7 have been shown to produce two distinct disorders: Na(V)1.7 mutations that enhance activation produce inherited erythromelalgia (IEM), characterized by burning pain in the extremities; Na(V)1.7 mutations that impair inactivation produce a different, nonoverl...
Topics
- Alanine
- Animals
- Animals, Newborn
- Cells, Cultured
- Child
- Dose-Response Relationship, Radiation
- Electric Stimulation
- Erythromelalgia
- Ganglia, Spinal
- Glutamic Acid
- Humans
- Male
- Membrane Potentials