Na⁺ channel mutation leading to loss of function and non-progressive cardiac conduction defects

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• 作者：Herfst ; Lucas J. ; Potet ; Franck ; Bezzina ; Connie R. ; Groenewegen ; W. Antoinette ; Le Marec ; Hervé ; et. al.
• 关键词：Cardiac conduction defect ; Lenè ; gre&ndash ; Lev disease ; Brugada syndrome ; Nav 1.5 ; Cardiac sodium channel ; SCN5A ; Familial heart block
• 刊名：Journal of Molecular and Cellular Cardiology
• 出版年：2003
• 出版时间：May, 2003
• 年：2003
• 卷：35
• 期：5
• 页码：549-557
• 全文大小：457 K

文摘

Background – We previously described a Dutch family in which congenital cardiac conduction disorder has clinically been identified. The ECG of the index patient showed a first-degree AV block associated with extensive ventricular conduction delay. Sequencing of the SCN5A locus coding for the human cardiac Na⁺ channel revealed a single nucleotide deletion at position 5280, resulting in a frame-shift in the sequence coding for the pore region of domain IV and a premature stop codon at the C-terminus.