期刊
ANNALS OF MEDICINE
卷 38, 期 7, 页码 472-482出版社
TAYLOR & FRANCIS LTD
DOI: 10.1080/07853890600969072
关键词
arrhythmias; electrophysiology; epilepsy; genetics; heart; ion channels; muscle; nerve; periodic paralysis; sodium
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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