SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels.

@article{Drenth2005SCN9AMD,
  title={SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels.},
  author={Joost P. H. Drenth and Ren{\'e} HM te Morsche and G{\'e}rard Guillet and Alain Taieb and R Lee Kirby and Jan B. M. J. Jansen},
  journal={The Journal of investigative dermatology},
  year={2005},
  volume={124 6},
  pages={1333-8}
}
Primary erythermalgia is a rare disorder characterized by recurrent attacks of red, warm and painful hands, and/or feet. We previously localized the gene for primary erythermalgia to a 7.94 cM region on chromosome 2q. Recently, Yang et al identified two missense mutations of the sodium channel alpha subunit SCN9A in patients with erythermalgia. The presence of voltage-gated sodium channels in sensory neurons is thought to play a crucial role in several chronic painful neuropathies. We examined… CONTINUE READING

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