George Alfred L
Division of Genetic Medicine, Department of Medicine, Vanderbilt University, Nashville, Tennessee 37232-0275, USA.
J Clin Invest. 2005 Aug;115(8):1990-9. doi: 10.1172/JCI25505.
A variety of inherited human disorders affecting skeletal muscle contraction, heart rhythm, and nervous system function have been traced to mutations in genes encoding voltage-gated sodium channels. Clinical severity among these conditions ranges from mild or even latent disease to life-threatening or incapacitating conditions. The sodium channelopathies were among the first recognized ion channel diseases and continue to attract widespread clinical and scientific interest. An expanding knowledge base has substantially advanced our understanding of structure-function and genotype-phenotype relationships for voltage-gated sodium channels and provided new insights into the pathophysiological basis for common diseases such as cardiac arrhythmias and epilepsy.
多种影响骨骼肌收缩、心律和神经系统功能的人类遗传性疾病已被追溯到编码电压门控钠通道的基因突变。这些病症的临床严重程度从轻度甚至潜伏性疾病到危及生命或使人丧失能力的病症不等。钠通道病是最早被认识的离子通道疾病之一，并且继续吸引着广泛的临床和科学关注。不断扩大的知识库极大地推进了我们对电压门控钠通道的结构-功能和基因型-表型关系的理解，并为诸如心律失常和癫痫等常见疾病的病理生理基础提供了新的见解。
