title: Inherited Pain Syndromes and Ion Channels.
abstract: Individuals rely on the perception of pain to avoid injury, to signal disease, and to warn about tissue inflammation and damage. However, the inheritance of inappropriate, extreme, or inadequate pain production is a source of significant human suffering. Substantial progress has been made in our understanding of the genetics and pathophysiology of pain through the study of individuals and families with several specific inherited pain syndromes. These studies have led to the discovery of a number of gene mutations associated with specific ion channel disturbances that produce familial inherited pain sensitivity and insensitivity syndromes. The sodium channel has been identified as the primary determinant of most of these syndromes. This article focuses on the inherited pain syndromes and their corresponding ion channel mutations. There is hope that through continued research into these ion channels and pain syndromes, targeted drug therapy would be fruitful and beneficial to those afflicted.
authors.affiliation: Department of Pediatrics, Connecticut Children's Medical Center, Hartford CT; Division of Pediatric Neurology, Connecticut Children's Medical Center, Hartford CT; University of Connecticut School of Medicine, Farmington, CT. Electronic address: fdimari@connecticutchildrens.org.
authors.forename: Francis J
authors.initials: FJ
authors.lastname: DiMario
mesh_terms: D006801:Humans; D007473:Ion Channels / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D010146:Pain / Q000235:genetics* / Q000378:metabolism; D013577:Syndrome
chemical_list: D007473:Ion Channels