Associated Papers
Molecular mechanisms of function deficiencies in KCNQ1 variants associated with Jervell and Lange-Nielsen syndrome.
Pan X et al.
Channels (austin, Tex.), 2025
GDC: Integration of Multi-Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss.
Cheng H et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.
Austin R et al.
Genetics in Medicine Open, 2024
Gene mutations in comorbidity of epilepsy and arrhythmia.
Yu C et al.
Journal of Neurology, 2023
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?
Bleakley LE et al.
Frontiers in Neurology, 2020
CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.
Whiffin N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded Kv7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation.
Paquin A et al.
Heartrhythm Case Reports, 2018
Effects of protein-protein interactions and ligand binding on the ion permeation in KCNQ1 potassium channel.
Jalily Hasani H et al.
Plos One, 2018
Identification of KCNQ1 compound heterozygous mutations in three Chinese families with Jervell and Lange-Nielsen Syndrome.
Wang C et al.
Acta Oto-laryngologica, 2017
Molecular pathogenesis of long QT syndrome type 1.
Wu J et al.
Journal of Arrhythmia, 2016
Follow-up of 316 molecularly defined pediatric long-QT syndrome patients: clinical course, treatments, and side effects.
Koponen M et al.
Circulation. Arrhythmia and Electrophysiology, 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
Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.
Mousavi Nik A et al.
Frontiers in Cellular Neuroscience, 2015
Ion channels in genetic and acquired forms of epilepsy.
Lerche H et al.
The Journal of Physiology, 2013
Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death.
Goldman AM et al.
Science Translational Medicine, 2009
The G314S KCNQ1 mutation exerts a dominant-negative effect on expression of KCNQ1 channels in oocytes.
Li W et al.
Biochemical and Biophysical Research Communications, 2009
Transcription factor MEF2A mutations in patients with coronary artery disease.
Bhagavatula MR et al.
Human Molecular Genetics, 2004
Targeted point mutagenesis of mouse Kcnq1: phenotypic analysis of mice with point mutations that cause Romano-Ward syndrome in humans.
Casimiro MC et al.
Genomics, 2004
Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.
Zareba W et al.
Journal of Cardiovascular Electrophysiology, 2003
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
Dysfunction of delayed rectifier potassium channels in an inherited cardiac arrhythmia.
Sanguinetti MC
Annals of the New York Academy of Sciences, 1999
Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.
Shalaby FY et al.
Circulation, 1997