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A hot topic: temperature sensitive sodium channelopathies.
- Source :
-
Channels (Austin, Tex.) [Channels (Austin)] 2012 Mar-Apr; Vol. 6 (2), pp. 75-85. Date of Electronic Publication: 2012 Mar 01. - Publication Year :
- 2012
-
Abstract
- 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.
- Subjects :
- Brugada Syndrome metabolism
Brugada Syndrome physiopathology
Channelopathies metabolism
Channelopathies physiopathology
Electrophysiological Phenomena genetics
Electrophysiological Phenomena physiology
Epilepsies, Myoclonic metabolism
Epilepsies, Myoclonic physiopathology
Erythromelalgia metabolism
Erythromelalgia physiopathology
Homeostasis physiology
Humans
Long QT Syndrome metabolism
Long QT Syndrome physiopathology
Myotonic Disorders metabolism
Myotonic Disorders physiopathology
Seizures, Febrile metabolism
Seizures, Febrile physiopathology
Body Temperature physiology
Channelopathies genetics
Mutation
Sodium Channels genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1933-6969
- Volume :
- 6
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Channels (Austin, Tex.)
- Publication Type :
- Academic Journal
- Accession number :
- 22643347
- Full Text :
- https://doi.org/10.4161/chan.19827