Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.L191fs
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KCNQ1

NM_000218.3:p.L191fs

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

41147441 (PubMed )
Supplement: KCHL_A_2580177_SM8819.pdf

Precision therapy in congenital long QT syndrome.

Neves R et al.

Trends in Cardiovascular Medicine, 2024

Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.

Wang M et al.

Frontiers in Cardiovascular Medicine, 2022

36277779 (PubMed )
Supplement: Data_Sheet_1.pdf

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

Marked, transient, emotion-triggered QT accentuation in an adolescent female with type 1 long QT syndrome.

Anderson HN et al.

Cardiology in the Young, 2015

Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.

Christiansen M et al.

Bmc Medical Genetics, 2014

Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity.

Giudicessi JR et al.

Circulation. Cardiovascular Genetics, 2013

Ion channel mechanisms related to sudden cardiac death in phenotype-negative long-QT syndrome genotype-phenotype correlations of the KCNQ1(S349W) mutation.

Horr S et al.

Journal of Cardiovascular Electrophysiology, 2011

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

Prevalence of early-onset atrial fibrillation in congenital long QT syndrome.

Johnson JN et al.

Heart Rhythm, 2008

Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.

Moss AJ et al.

Circulation, 2007

Postmortem long QT syndrome genetic testing for sudden unexplained death in the young.

Tester DJ et al.

Journal of the American College of Cardiology, 2007

Epinephrine QT stress testing in the evaluation of congenital long-QT syndrome: diagnostic accuracy of the paradoxical QT response.

Vyas H et al.

Circulation, 2006

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

Tester DJ et al.

Heart Rhythm, 2005

Genetic testing for risk stratification in hypertrophic cardiomyopathy and long QT syndrome: fact or fiction?

Ackerman MJ

Current Opinion in Cardiology, 2005

Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.

Choi G et al.

Circulation, 2004

Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome.

Nemec J et al.

Pacing and Clinical Electrophysiology : Pace, 2003

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Splawski I et al.

Circulation, 2000

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."