Associated Papers
Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk.
Harvey ML et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Molecular mechanisms of function deficiencies in KCNQ1 variants associated with Jervell and Lange-Nielsen syndrome.
Pan X et al.
Channels (austin, Tex.), 2025
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
Molecular genetics in 1991 arrhythmia probands and 2782 relatives in Norway: Results from 17 years of genetic testing in a national laboratory.
Stava TT et al.
Clinical Genetics, 2024
The Pathological Mechanisms of Hearing Loss Caused by KCNQ1 and KCNQ4 Variants.
Homma K
Biomedicines, 2022
Phosphatidylinositol-4,5-bisphosphate is required for KCNQ1/KCNE1 channel function but not anterograde trafficking.
Royal AA et al.
Plos One, 2017
The Jervell and Lange-Nielsen syndrome; atrial pacing combined with ß-blocker therapy, a favorable approach in young high-risk patients with long QT syndrome?
Früh A et al.
Heart Rhythm, 2016
QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome.
Seethala S et al.
Journal of the American Heart Association, 2015
Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.
Leong IU et al.
Bmc Medical Genetics, 2015
Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.
Ruklisa D et al.
Genome Medicine, 2015
Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1.
Harmer SC et al.
The Biochemical Journal, 2014
Abnormal electroencephalograms in patients with long QT syndrome.
Haugaa KH et al.
Heart Rhythm, 2013
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
Lieve KV et al.
Genetic Testing and Molecular Biomarkers, 2013
Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel.
Harmer SC et al.
The Biochemical Journal, 2012
A hydrophobicity-dependent motif responsible for surface expression of cardiac potassium channel.
Pan N et al.
Cellular Signalling, 2009
A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family.
Ohno S et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2008
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.
Berge KE et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2008
[The mechanistic rote of KCNH2 gene L413P and L559H mutations in long QT syndrome].
Li CL et al.
Zhonghua Nei Ke Za Zhi, 2007
[Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome].
Liu WL et al.
Zhonghua Nei Ke Za Zhi, 2006
Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1).
Wilson AJ et al.
Cardiovascular Research, 2005
Sudden infant death syndrome not caused by Norwegian Jervell and Lange-Nielsen mutations.
Arnestad M et al.
American Journal of Medical Genetics. Part A, 2005
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
Tester DJ et al.
Heart Rhythm, 2005
[Heterozygous mutation in KCNQ1 cause Jervell and Lange-Nielsen syndrome].
Liu WL et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2005
[The mutation scanning of KCNQ1 gene for 31 long QT syndrome families].
Li P et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004
Mutation analysis of potassium channel genes KCNQ1 and KCNH2 in patients with long QT syndrome.
Liu W et al.
Chinese Medical Journal, 2003
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
Liu W et al.
Human Mutation, 2002
A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome.
Huang L et al.
Cardiovascular Research, 2001
Jervell and Lange-Nielsen syndrome: a Norwegian perspective.
Tranebjaerg L et al.
American Journal of Medical Genetics, 1999