Article
SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia.
Proceedings of the National Academy of Sciences of the United States of America - 6 Oct 2015
Musa Hassan, Kline Crystal F, Sturm Amy C, Murphy Nathaniel, Adelman Sara, Wang Chaojian, Yan Haidun, Johnson Benjamin L, Csepe Thomas A, Kilic Ahmet, Higgins Robert S D, Janssen Paul M L, Fedorov Vadim V, Weiss Raul, Salazar Christina, Hund Thomas J, Pitt Geoffrey S, Mohler Peter J
Abstract excerpt
Nav channels are essential for metazoan membrane depolarization, and Nav channel dysfunction is directly linked with epilepsy, ataxia, pain, arrhythmia, myotonia, and irritable bowel syndrome. Human Nav channelopathies are primarily caused by variants that directly affect Nav channel permeability or gating. However, a new class of human Nav channelopathies has emerged based on channel variants that alter...
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