Associated Papers
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
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
32431610 (PubMed )
Supplement: Table_1.xlsx › mutation_list
The enigmatic cytoplasmic regions of KCNH channels.
Morais-Cabral JH et al.
Journal of Molecular Biology, 2015
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
Anderson CL et al.
Nature Communications, 2014
Clinical and electrophysiological characterization of a novel mutation R863X in HERG C-terminus associated with long QT syndrome.
Teng S et al.
Journal of Molecular Medicine (berlin, Germany), 2004
Defective protein trafficking in hERG-associated hereditary long QT syndrome (LQT2): molecular mechanisms and restoration of intracellular protein processing.
Thomas D et al.
Cardiovascular Research, 2003
Interaction with GM130 during HERG ion channel trafficking. Disruption by type 2 congenital long QT syndrome mutations. Human Ether-à-go-go-Related Gene.
Roti EC et al.
The Journal of Biological Chemistry, 2002
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