Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano–Ward syndrome
نویسندگان
چکیده
منابع مشابه
Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano–Ward syndrome
As a result of cell-specific functions of voltage-activated K(+) channels, such as Kv7.1, mutations in this channel produce profound cardiac and auditory defects. At the same time, the massive diversity of K(+) channels allows for compensatory substitution of mutant channels by other functional channels of their type to minimize defective phenotypes. Kv7.1 represents a clear example of such fun...
متن کاملThe Jervell and Lange-Nielsen Syndrome
Background—Data on the Jervell and Lange-Nielsen syndrome (J-LN), the long-QT syndrome (LQTS) variant associated with deafness and caused by homozygous or compound heterozygous mutations on the KCNQ1 or on the KCNE1 genes encoding the IKs current, are still based largely on case reports. Methods and Results—We analyzed data from 186 J-LN patients obtained from the literature (31%) and from indi...
متن کاملThe Jervell and Lange-Nielsen syndrome.
Deafness and electrocardiographic changes (prolongation of the Q-T interval and inversion of the T wave) with a clinical picture of syncopal attacks and sudden death, were described as a distinct syndrome by Jervell and Lange-Nielsen in 1957. The syndrome is inherited as an autosomal recessive trait. In this study, all the cases reported since 1957 and their proposed prevalence are reviewed. Th...
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Repeated invasive electrophysiological studies in a 7-year-old boy with the classic Jervell and Lange-Nielsen syndrome disclosed increased ventricular refractoriness, unusual late diastolic endocardial waveforms, and the inability to induce ventricular fibrillation. Despite apparently beneficial electrophysiological responses to left stellate block, surgical left cervical sympathectomy was foll...
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Congenital long QT syndrome is a rare hereditary disease that is related to the dysfunction of ion channels in cardiac cells. We report on a very rare case of its autosomal recessive form--the Jervell-Lange Nielsen syndrome--in a Pakistani family, which was diagnosed after the incidental finding of bradycardia in a newborn baby girl. We discuss the range of presentations in neonates; the import...
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ژورنال
عنوان ژورنال: Frontiers in Cellular Neuroscience
سال: 2015
ISSN: 1662-5102
DOI: 10.3389/fncel.2015.00032