Painful Na-channelopathies: an expanding universe

Trends Mol Med. 2013 Jul;19(7):406-9. doi: 10.1016/j.molmed.2013.04.003. Epub 2013 May 8.


The universe of painful Na-channelopathies--human disorders caused by mutations in voltage-gated sodium channels--has recently expanded in three dimensions. We now know that mutations of sodium channels cause not only rare genetic 'model disorders' such as inherited erythromelalgia and channelopathy-associated insensitivity to pain but also common painful neuropathies. We have learned that mutations of NaV1.8, as well as mutations of NaV1.7, can cause painful Na-channelopathies. Moreover, recent studies combining atomic level structural models and pharmacogenomics suggest that the goal of genomically guided pain therapy may not be unrealistic.

Publication types

  • Review

MeSH terms

  • Animals
  • Channelopathies / drug therapy
  • Channelopathies / genetics*
  • Erythromelalgia / drug therapy
  • Erythromelalgia / genetics
  • Gene Expression Regulation
  • Genetic Association Studies
  • Humans
  • Mutation
  • NAV1.7 Voltage-Gated Sodium Channel / genetics
  • NAV1.8 Voltage-Gated Sodium Channel / genetics
  • Pain / drug therapy
  • Pain / genetics*
  • Pain Threshold
  • Peripheral Nervous System Diseases / drug therapy
  • Peripheral Nervous System Diseases / genetics*
  • Pharmacogenetics
  • Rectum / abnormalities
  • Rectum / drug effects
  • Sodium Channels / genetics*


  • NAV1.7 Voltage-Gated Sodium Channel
  • NAV1.8 Voltage-Gated Sodium Channel
  • Sodium Channels

Supplementary concepts

  • Neuropathy, Painful
  • Paroxysmal Extreme Pain Disorder