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Heart rhythm, ISSN 1547-5271, 09/2019
Loss-of-function variants in the KCNH2-encoded Kv11.1 potassium channel cause long QT syndrome (LQTS) type 2 (LQT2). Presently, hundreds of KCNH2 missense... 
Journal Article
Revista Espanola de Cardiologia, ISSN 0300-8932, 10/2015, Volume 68, Issue 10, pp. 861 - 868
Introduction and objectives Long QT syndrome is an inherited ion channelopathy that leads to syncope and sudden death. Because of the heterogeneous phenotype... 
Long QT syndrome | Sudden death | KCNH2 gene
Journal Article
Journal Article
Journal of Molecular and Cellular Cardiology, ISSN 0022-2828, 2015, Volume 87, pp. 192 - 193
Journal Article
Cell Reports, ISSN 2211-1247, 01/2019
textabstractThe human ether-a-go-go-related gene KCNH2 encodes the voltage-gated potassium channel underlying IKr, a current critical for the repolarization... 
enhancer | hERG | regulatory element | transcriptional regulation | LQTS | ncRNA | chromatin conformation | CRISPR genome editing | Kcnh2
Journal Article
eLife, ISSN 2050-084X, 10/2019, Volume 8
Catastrophic arrhythmias and sudden cardiac death can occur with even a small imbalance between inward sodium currents and outward potassium currents, but... 
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2009, Volume 41, Issue 4, pp. 407 - 414
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 05/2019, Volume 512, Issue 4, pp. 845 - 851
Pathogenic long QT mutations often comprise high phenotypic variability and particularly variants in long QT syndrome 4) frequently lack QT prolongation. We... 
KCNH2 | Long QT syndrome | Conduction disease | ANK2 | Arrhythmia | GO-RELATED GENE | VARIANTS | ANKYRIN-B | BIOCHEMISTRY & MOLECULAR BIOLOGY | PHENOTYPE | CARDIAC-ARRHYTHMIA | BIOPHYSICS | ETHER | DYSFUNCTION | EXPRESSION | Heart | Fainting | Medical colleges | Genetic aspects
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2009, Volume 41, Issue 4, pp. 399 - 406
Journal Article
Journal of Molecular and Cellular Cardiology, ISSN 0022-2828, 10/2019, Volume 135, pp. 22 - 30
Rett Syndrome (RTT) is an X-linked neurodevelopmental disorder associated with respiratory abnormalities and, in up to ~40% of patients, with prolongation of... 
KCNH2 | Long QT syndrome | hERG | Rett Syndrome | Sarizotan | INTERVAL | CARDIAC & CARDIOVASCULAR SYSTEMS | PROLONGATION | DEPENDENCE | CELL BIOLOGY | SHORT QT SYNDROME | MECP2 | TORSADE-DE-POINTES | PHARMACOLOGY | MUTATION | INACTIVATED STATE | POTASSIUM CHANNEL | Index Medicus
Journal Article
Journal Article
Methods in Molecular Biology, ISSN 1064-3745, 2018, Volume 1684, pp. 37 - 49
Long QT syndrome type 2 (LQT2) is caused by mutations in the human ether-à-go-go related gene (hERG), which encodes the Kv11.1 potassium channel in the heart.... 
KCNH2 | Long QT syndrome | Nonsense-mediated mRNA decay | Potassium channel
Journal Article
Cardiology in the Young, ISSN 1047-9511, 05/2019, Volume 29, Issue 5, pp. 697 - 698
The coexistence of long QT syndrome with 2:1 or complete atrioventricular blocks has been reported in the literature, but, to the best of our knowledge, this... 
Long QT syndrome | KCNH2 mutation | first-degree atrioventricular block | PEDIATRICS | CARDIAC & CARDIOVASCULAR SYSTEMS | Electrocardiography | Coexistence | Heart surgery
Journal Article
European Archives of Psychiatry and Clinical Neuroscience, ISSN 0940-1334, 2019, p. 1
A deficit in task-related functional connectivity modulation from electroencephalogram (EEG) has been described in schizophrenia. The use of measures of... 
KCNH2 | Schizophrenia | Small-world | Electroencephalography | CACNA1C | Phenotypes | Mental disorders | EEG | Cortex | Cognitive ability | Excitability | Genotype & phenotype | Neural networks | Alleles | Connectivity | Ion channels | Genetic factors | Genotypes
Journal Article
Circulation, ISSN 0009-7322, 07/2014, Volume 130, Issue 3, pp. 224 - 234
Journal Article