Article
Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 13 Jul 2016
Yang Yang, Huang Jianying, Mis Malgorzata A, Estacion Mark, Macala Lawrence, Shah Palak, Schulman Betsy R, Horton Daniel B, Dib-Hajj Sulayman D, Waxman Stephen G
Abstract excerpt
UNLABELLED: Voltage-gated sodium channel Nav1.7 is a central player in human pain. Mutations in Nav1.7 produce several pain syndromes, including inherited erythromelalgia (IEM), a disorder in which gain-of-function mutations render dorsal root ganglia (DRG) neurons hyperexcitable. Although patients with IEM suffer from episodes of intense burning pain triggered by warmth, the effects of increased temperature on...
Topics
- Alanine
- Animals
- Cells, Cultured
- Erythromelalgia
- Female
- Ganglia, Spinal
- Glutamine
- HEK293 Cells
- Humans
- Male