Department of Pediatrics, Loyola University Chicago, Stritch School of Medicine, Maywood, IL, United States.
Department of Medicine, Ohio State University, Columbus, OH, United States.
Handb Clin Neurol. 2021;177:185-188. doi: 10.1016/B978-0-12-819814-8.00014-7.
This chapter describes what a channelopathy is and how mutations in the genes result in different types of clinical abnormalities. It provides a description of common types of cardiac channelopathies with examples of how there are some areas of overlap with sensory-neuromuscular channelopathies. We describe the cardiac channelopathies of Jervell and Lange-Nielson syndrome, Andersen-Tawil syndrome, Timothy syndrome, catecholaminergic polymorphic ventricular tachycardia, Brugada syndrome, and sinoatrial node dysfunction and deafness. We also discuss sudden unexpected death in epilepsy and how it could relate to some cardiac channelopathies.
本章介绍了什么是通道病，以及基因突变如何导致不同类型的临床异常。它描述了常见类型的心脏通道病，并举例说明了与感觉-运动神经元通道病的一些重叠领域。我们描述了杰弗尔和 Lange-尼尔森综合征、安德森-塔威利综合征、蒂莫西综合征、儿茶酚胺多形性室性心动过速、布鲁加达综合征以及窦房结功能障碍和耳聋的心脏通道病。我们还讨论了癫痫猝死以及它如何与某些心脏通道病相关。
