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Gain-of-function KCNH2 mutations in patients with Brugada syndrome
Gain-of-function KCNH2 mutations in patients with Brugada syndromeopenaire +1 more source
International Journal of Cardiology, 2010 El síndrome de QT largo es una cardiopatía congénita que produce arritmias ventriculares y muerte súbita. Se han descrito mutaciones genéticas en dos genes de canales iónicos proteicos, KCNQ1 y KCNH2.
Maria J García-Torrent
exaly +2 more sources
American Journal of Human Genetics, 2022 Modern sequencing technologies have revolutionized our detection of gene variants. However, in most genes, including KCNH2, the majority of missense variants are currently classified as variants of uncertain significance (VUSs). The aim of this study was
Jamie Vandenberg +2 more
exaly +2 more sources
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Role of the R1135H KCNH2 mutation in Brugada syndrome
International Journal of Cardiology, 2010Abstract Recently, a novel mutation, R1135H, in KCNH2 , the gene encoding the α-subunit of the rapid delayed rectifier K + channel ( I Kr ), has been identified in a patient with short QT interval as well as Brugada-type ECG. Voltage clamp experiments revealed larger tail currents and slowed deactivation of mutant I Kr channels.
Ronald Wilders, Arie O. Verkerk
exaly +3 more sources
Identification and expression analysis of kcnh2 genes in the zebrafish
Biochemical and Biophysical Research Communications, 2010Long QT syndrome is a disorder that is characterised by a prolonged QT-interval and can lead to fatal cardiac arrhythmias. Many animal models have been created to study congenital long QT syndrome. Of these, zebrafish models have involved targeting two different KCNH2 gene (long QT syndrome 2) orthologues, termed zerg-2 and zerg-3, with differing ...
Ivone Un San, Leong +3 more
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A novel KCNH2 mutation as a modifier for short QT interval
International Journal of Cardiology, 2009In a 34-year-old man showing short QT interval (QTc 329 ms), we identified a novel C-terminal KCNH2 mutation, R1135H. Using a heterologous expression system with CHO cells, the mutant channels were found to display a significantly slow deactivation, which resulted in a gain-of-function for reconstituted 'I(Kr)' channels.
Takashi Ashihara +2 more
exaly +2 more sources
TheKCNH2gene is associated with neurocognition and the risk of schizophrenia
The World Journal of Biological Psychiatry, 2011A genetic variant (rs3800779; M30) in the KCNH2 gene has been associated with schizophrenia, a lower intelligence quotient (IQ) and processing speed scores, altered brain functions and increased KCNH2-3.1. mRNA levels in the hippocampus. The aims of this study were to investigate whether the KCNH2 polymorphism is associated with schizophrenia-related ...
Ryota, Hashimoto +9 more
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Congenital long QT syndrome with compound mutations in the KCNH2 gene
Heart and Vessels, 2013Congenital long QT syndrome is a genetic disorder encompassing a family of mutations that can lead to aberrant ventricular electrical activity. We report on two brothers with long QT syndrome caused by compound mutations in the KCNH2 gene inherited from parents who had no prolonged QT interval on electrocardiography.
Sachiko, Bando +13 more
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Short QT Syndrome and Atrial Fibrillation Caused by Mutation in KCNH2
Journal of Cardiovascular Electrophysiology, 2005Background: The short QT syndrome is a newly described clinical entity characterized by the presence of a short QT interval associated with cardiac tachyarrhythmias including sudden cardiac death at a young age in otherwise healthy individuals. A genetic basis has been identified linking the disease to mutations in KCNH2 in the familial forms and a ...
Kui, Hong +3 more
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