Journal
ANNALS OF MEDICINE
Volume 38, Issue 7, Pages 472-482Publisher
TAYLOR & FRANCIS LTD
DOI: 10.1080/07853890600969072
Keywords
arrhythmias; electrophysiology; epilepsy; genetics; heart; ion channels; muscle; nerve; periodic paralysis; sodium
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Voltage-gated sodium channels are responsible for the upstroke of the action potential and thereby play an important role in propagation of the electrical impulse in excitable tissues like muscle, nerve and the heart. Duplication of the sodium channels encoding genes during evolution. generated the sodium channel gene family with the different isoforms differing in biophysical properties and tissue distribution. In this review article, mutations in these genes leading to various inherited disorders are discussed.
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