Associated Papers
Identification and functional assessment of a KCNH2 compound heterozygosity in a patient with presumed idiopathic ventricular fibrillation ascertains the diagnosis of long QT syndrome type 2.
Janková N et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2026
Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.
Fazelifar AF et al.
Journal of Arrhythmia, 2023
Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome.
Lahrouchi N et al.
Journal of the American College of Cardiology, 2017
Translational toxicology and rescue strategies of the hERG channel dysfunction: biochemical and molecular mechanistic aspects.
Zhang KP et al.
Acta Pharmacologica Sinica, 2014
Identification and functional characterization of the human ether-a-go-go-related gene Q738X mutant associated with hereditary long QT syndrome type 2.
Han SN et al.
International Journal of Molecular Medicine, 2014
Identification and characterization of a novel genetic mutation with prolonged QT syndrome in an unexplained postoperative death.
Hata Y et al.
International Journal of Legal Medicine, 2014
L539 fs/47, a truncated mutation of human ether-a-go-go-related gene (hERG), decreases hERG ion channel currents in HEK 293 cells.
Zhang A et al.
Clinical and Experimental Pharmacology & Physiology, 2013
Cellular properties of C-terminal KCNH2 long QT syndrome mutations: description and divergence from clinical phenotypes.
Biliczki P et al.
Heart Rhythm, 2008
Defective assembly and trafficking of mutant HERG channels with C-terminal truncations in long QT syndrome.
Gong Q et al.
Journal of Molecular and Cellular Cardiology, 2004
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
Characterization of a novel missense mutation in the pore of HERG in a patient with long QT syndrome.
Yoshida H et al.
Journal of Cardiovascular Electrophysiology, 1999
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.
Jongbloed RJ et al.
Human Mutation, 1999
Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome.
Itoh T et al.
Human Genetics, 1998
[Mutational analyses of familial long QT syndrome].
Tanaka T
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1998