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
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
Rescue of loss-of-function long QT syndrome-associated mutations in KV7.1/KCNE1 by the endocannabinoid N-arachidonoyl-L-serine (ARA-S).
Hiniesto-Iñigo I et al.
British Journal of Pharmacology, 2025
Integrative analysis of KCNQ1 variants reveals molecular mechanisms of type 1 long QT syndrome pathogenesis.
Brewer KR et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Dual effects of mefenamic acid on the IKs molecular complex.
Chan M et al.
British Journal of Pharmacology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
KCNQ1 p.D446E Variant as a Risk Allele for Arrhythmogenic Phenotypes: Electrophysiological Characterization Reveals a Complex Phenotype Affecting the Slow Delayed Rectifier Potassium Current (IKs) Voltage Dependence by Causing a Hyperpolarizing Shift and a Lack of Response to Protein Kinase A Activation.
González-Garrido A et al.
International Journal of Molecular Sciences, 2024
Predicting the functional impact of KCNQ1 variants with artificial neural networks.
Phul S et al.
Plos Computational Biology, 2022
Structural Modelling of KCNQ1 and KCNH2 Double Mutant Proteins, Identified in Two Severe Long QT Syndrome Cases, Reveals New Insights into Cardiac Channelopathies.
Agudelo WA et al.
International Journal of Molecular Sciences, 2021
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Compound Heterozygous KCNQ1 Mutations Causing Recessive Romano-Ward Syndrome: Functional Characterization by Mutant Co-expression.
González-Garrido A et al.
Frontiers in Cardiovascular Medicine, 2021
Novel polygenetic variants evidenced in a patient with Jervell and Lange-Nielsen syndrome.
Cepeda-Nieto AC et al.
Cardiology Journal, 2021
A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.
Kernik DC et al.
Plos Computational Biology, 2020
Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.
Campuzano O et al.
Ebiomedicine, 2020
Compound and heterozygous mutations of KCNQ1 in long QT syndrome with familial history of unexplained sudden death: Identified by analysis of whole exome sequencing and predisposing genes.
Lin Y et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2020
High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance.
Vanoye CG et al.
Circulation. Genomic and Precision Medicine, 2018
Genetic Testing for Inherited Cardiac Arrhythmias: Current State-of-the-Art and Future Avenues.
Hylind RJ et al.
The Journal of Innovations in Cardiac Rhythm Management, 2018
Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.
Clemens DJ et al.
Heart Rhythm, 2018
The phenotype is equally important in promoting variants from benign to pathogenic as well as in demoting variants from pathogenic to benign.
Amin AS et al.
Heart Rhythm, 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
Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance.
Li B et al.
Circulation. Cardiovascular Genetics, 2017
Compound heterozygous KCNQ1 mutations (A300T/P535T) in a child with sudden unexplained death: Insights into possible molecular mechanisms based on protein modeling.
Antúnez-Argüelles E et al.
Gene, 2017
Semiconductor Whole Exome Sequencing for the Identification of Genetic Variants in Colombian Patients Clinically Diagnosed with Long QT Syndrome.
Burgos M et al.
Molecular Diagnosis & Therapy, 2016
KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.
Vyas B et al.
American Journal of Medical Genetics. Part A, 2016
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
A Common Mutation of Long QT Syndrome Type 1 in Japan.
Itoh H et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2015
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
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
Kapa S et al.
Circulation, 2009
Structure of KCNE1 and implications for how it modulates the KCNQ1 potassium channel.
Kang C et al.
Biochemistry, 2008
Structural models for the KCNQ1 voltage-gated potassium channel.
Smith JA et al.
Biochemistry, 2007
Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.
Zareba W et al.
Journal of Cardiovascular Electrophysiology, 2003
Mutation in KCNQ1 that has both recessive and dominant characteristics.
Murray A et al.
Journal of Medical Genetics, 2002
Mechanisms of I(Ks) suppression in LQT1 mutants.
Bianchi L et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2000
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
Novel KCNQ1 mutations associated with recessive and dominant congenital long QT syndromes: evidence for variable hearing phenotype associated with R518X.
Wei J et al.
Human Mutation, 2000
Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk.
Chouabe C et al.
Cardiovascular Research, 2000
[Hypokalemia, ventricular arrhythmia, ion channel defects, etc. Re: Conn syndrome and severe arrhythmia].
Novotný T et al.
Vnitrni Lekarstvi, 1999
Ion channel defects in cardiac arrhythmia.
Kirsch GE
The Journal of Membrane Biology, 1999
Low penetrance in the long-QT syndrome: clinical impact.
Priori SG et al.
Circulation, 1999
A recessive variant of the Romano-Ward long-QT syndrome?
Priori SG et al.
Circulation, 1998
Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families.
Zafari Z et al.
Journal of Electrocardiology, 0