A hot topic: temperature sensitive sodium channelopathies.
Perturbations to body temperature affect almost all cellular processes and, within certain limits, results in minimal effects on overall physiology. Genetic mutations to ion channels, or channelopathies, can shift the fine homeostatic balance resulting in a decreased threshold to temperature induced disturbances. This review summarizes the functional consequences of currently identified voltage-gated sodium (NaV) channelopathies that lead to disorders with a temperature sensitive phenotype. A comprehensive knowledge of the relationships between genotype and environment is not only important for understanding the etiology of disease, but also for developing safe and effective treatment paradigms.
Department of Biomedical Physiology and Kinesiology; Simon Fraser University; Burnaby, BC, Canada.
Csilla
C
Egri
Peter C
PC
Ruben
D001831:Body Temperature / Q000502:physiology*; D053840:Brugada Syndrome / Q000378:metabolism / Q000503:physiopathology; D053447:Channelopathies / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D055724:Electrophysiological Phenomena / Q000235:genetics / Q000502:physiology; D004831:Epilepsies, Myoclonic / Q000378:metabolism / Q000503:physiopathology; D004916:Erythromelalgia / Q000378:metabolism / Q000503:physiopathology; D006706:Homeostasis / Q000502:physiology; D006801:Humans; D008133:Long QT Syndrome / Q000378:metabolism / Q000503:physiopathology; D009154:Mutation; D020967:Myotonic Disorders / Q000378:metabolism / Q000503:physiopathology; D003294:Seizures, Febrile / Q000378:metabolism / Q000503:physiopathology; D015222:Sodium Channels / Q000235:genetics*
D015222:Sodium Channels