Background: Long QT syndrome (LQTS) leads to arrhythmic events and increased risk for sudden cardiac death (SCD). Homozygous KCNH2 mutations underlying LQTS-2 have previously been termed "human HERG knockout" and typically express severe phenotypes. We studied genotype-phenotype correlations of an LQTS type 2 mutation identified in the homozygous index patient from a consanguineous Turkish family after his brother died suddenly during febrile illness. Methods and Results: Clinical work-up, DNA sequencing, mutagenesis, cell culture, patch-clamp, in silico mathematical modelling, protein biochemistry, confocal microscopy were performed. Genetic analysis revealed a homozygous C-terminal KCNH2 mutation (p.R835Q) in the index patient (QTc ~506 ...
OBJECTIVE: Mutations in the KCNH2 (hERG, human ether-a-go-go related gene) gene may cause a reductio...
OBJECTIVE: Mutations in the KCNH2 (hERG, human ether-a-go-go related gene) gene may cause a reductio...
Long QT syndrome (LQTS) is a hereditary ion channelopathy resulting in prolonged cardiac repolarizat...
Background: Long QT syndrome (LQTS) leads to arrhythmic events and increased risk for sudden cardiac...
Background: Long QT syndrome (LQTS) leads to arrhythmic events and increased risk for sudden cardiac...
<div><p>Background</p><p>Long QT syndrome (LQTS) leads to arrhythmic events and increased risk for s...
Long QT syndrome (LQTS) leads to arrhythmic events and increased risk for sudden cardiac death (SCD)...
Long QT syndrome (LQTS) leads to arrhythmic events and increased risk for sudden cardiac death (SCD)...
Long QT syndrome is one of the most common hereditary channelopathies inducing fatal arrhythmias and...
AbstractOBJECTIVESWe studied the clinical characteristics and molecular background underlying a seve...
Long QT syndrome is one of the most common hereditary channelopathies inducing fatal arrhythmias and...
OBJECTIVE: Mutations in the KCNH2 (hERG, human ether-a-go-go related gene) gene may cause a reductio...
OBJECTIVE: Mutations in the KCNH2 (hERG, human ether-a-go-go related gene) gene may cause a reductio...
OBJECTIVE: Mutations in the KCNH2 (hERG, human ether-a-go-go related gene) gene may cause a reductio...
OBJECTIVE: Mutations in the KCNH2 (hERG, human ether-a-go-go related gene) gene may cause a reductio...
OBJECTIVE: Mutations in the KCNH2 (hERG, human ether-a-go-go related gene) gene may cause a reductio...
OBJECTIVE: Mutations in the KCNH2 (hERG, human ether-a-go-go related gene) gene may cause a reductio...
Long QT syndrome (LQTS) is a hereditary ion channelopathy resulting in prolonged cardiac repolarizat...
Background: Long QT syndrome (LQTS) leads to arrhythmic events and increased risk for sudden cardiac...
Background: Long QT syndrome (LQTS) leads to arrhythmic events and increased risk for sudden cardiac...
<div><p>Background</p><p>Long QT syndrome (LQTS) leads to arrhythmic events and increased risk for s...
Long QT syndrome (LQTS) leads to arrhythmic events and increased risk for sudden cardiac death (SCD)...
Long QT syndrome (LQTS) leads to arrhythmic events and increased risk for sudden cardiac death (SCD)...
Long QT syndrome is one of the most common hereditary channelopathies inducing fatal arrhythmias and...
AbstractOBJECTIVESWe studied the clinical characteristics and molecular background underlying a seve...
Long QT syndrome is one of the most common hereditary channelopathies inducing fatal arrhythmias and...
OBJECTIVE: Mutations in the KCNH2 (hERG, human ether-a-go-go related gene) gene may cause a reductio...
OBJECTIVE: Mutations in the KCNH2 (hERG, human ether-a-go-go related gene) gene may cause a reductio...
OBJECTIVE: Mutations in the KCNH2 (hERG, human ether-a-go-go related gene) gene may cause a reductio...
OBJECTIVE: Mutations in the KCNH2 (hERG, human ether-a-go-go related gene) gene may cause a reductio...
OBJECTIVE: Mutations in the KCNH2 (hERG, human ether-a-go-go related gene) gene may cause a reductio...
OBJECTIVE: Mutations in the KCNH2 (hERG, human ether-a-go-go related gene) gene may cause a reductio...
Long QT syndrome (LQTS) is a hereditary ion channelopathy resulting in prolonged cardiac repolarizat...