Article
Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7.
Molecular pain - 2 Dec 2011
Estacion Mark, Han Chongyang, Choi Jin-Sung, Hoeijmakers Janneke G J, Lauria Giuseppe, Drenth Joost P H, Gerrits Monique M, Dib-Hajj Sulayman D, Faber Catharina G, Merkies Ingemar S J, Waxman Stephen G
Abstract excerpt
BACKGROUND: Sodium channel NaV1.7 is preferentially expressed within dorsal root ganglia (DRG), trigeminal ganglia and sympathetic ganglion neurons and their fine-diamter axons, where it acts as a threshold channel, amplifying stimuli such as generator potentials in nociceptors. Gain-of-function mutations and variants (single amino acid substitutions) of NaV1.7 have been linked to three pain syndromes: Inherited...
Topics
- Amino Acid Sequence
- Female
- Ganglia, Spinal
- Genetic Variation
- HEK293 Cells
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation