title: Painful Na-channelopathies: an expanding universe.
abstract: 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.
authors.affiliation: Department of Neurology and Center for Neuroscience and Regeneration Research, Yale University School of Medicine, New Haven, CT 06510, USA. stephen.waxman@yale.edu
authors.forename: Stephen G
authors.initials: SG
authors.lastname: Waxman
mesh_terms: D000818:Animals; D053447:Channelopathies / Q000188:drug therapy / Q000235:genetics*; D004916:Erythromelalgia / Q000188:drug therapy / Q000235:genetics; D005786:Gene Expression Regulation; D056726:Genetic Association Studies; D006801:Humans; D009154:Mutation; D062556:NAV1.7 Voltage-Gated Sodium Channel / Q000235:genetics; D062559:NAV1.8 Voltage-Gated Sodium Channel / Q000235:genetics; D010146:Pain / Q000188:drug therapy / Q000235:genetics*; D017288:Pain Threshold; D010523:Peripheral Nervous System Diseases / Q000188:drug therapy / Q000235:genetics*; D010597:Pharmacogenetics; D012007:Rectum / Q000002:abnormalities / Q000187:drug effects; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D062556:NAV1.7 Voltage-Gated Sodium Channel; D062559:NAV1.8 Voltage-Gated Sodium Channel; D015222:Sodium Channels