Jurkat-Rott K, Lehmann-Horn F
Department of Applied Physiology, Ulm University, Germany.
Curr Opin Pharmacol. 2001 Jun;1(3):280-7. doi: 10.1016/s1471-4892(01)00050-9.
Insights in the field of ion channels were made possible by the Nobel-prize-winning patch-clamp technique that enables characterization of channel function, and have greatly been inspired by associated diseases pointing to regions of functional significance. These so-called ion channelopathies have common clinical features, recurrent patterns of mutations, and almost predictable mechanisms of pathogenesis. In skeletal muscle, disorders are associated with mutations in Na+, K+, Ca2+, and Cl- channels that lead to hypoexcitability (causing periodic paralysis) and to hyperexcitabilty (causing myotonia or susceptibility to malignant hyperthermia).
离子通道领域的见解得益于获得诺贝尔奖的膜片钳技术，该技术能够对通道功能进行表征，并且极大地受到指向功能重要区域的相关疾病的启发。这些所谓的离子通道病具有共同的临床特征、反复出现的突变模式以及几乎可预测的发病机制。在骨骼肌中，疾病与钠、钾、钙和氯通道的突变有关，这些突变会导致兴奋性降低（引起周期性麻痹）和兴奋性过高（引起肌强直或对恶性高热敏感）。
