Voltage‐gated sodium channels: action players with many faces

TT Koopmann, CR Bezzina, AAM Wilde - Annals of medicine, 2006 - Taylor & Francis
TT Koopmann, CR Bezzina, AAM Wilde
Annals of medicine, 2006Taylor & Francis
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.
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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