Molecular Basis of the Long-QT Syndrome Associated with Deafness

作者：Igor Splawski, Katherine W. Timothy, G. Michael Vincent, Donald L. Atkinson, Mark T. Keating · 发表于：New England Journal of Medicine · 年份：1997 · DOI：10.1056/nejm199705293362204 · 被引用次数：352 · 研究领域：Cardiac electrophysiology and arrhythmias、Ion channel regulation and function、RNA and protein synthesis mechanisms

In 1957, Jervell and Lange-Nielsen reported a syndrome of congenital sensory deafness associated with a prolonged QT interval in four children of a Norwegian family.1 The affected children had multiple syncopal episodes, and three died suddenly at the ages of four, five, and nine years. Since 1957, other examples of the long-QT syndrome associated with deafness (the Jervell and Lange-Nielsen syndrome) have been described.2–4 In all cases, the apparent mode of inheritance was autosomal recessive. This syndrome is rare (estimated incidence, 1.6 to 6 cases per million).2 Affected persons are susceptible to recurrent syncope, and they have a high . . .