Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ8
Variant:p.S422L
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KCNJ8

NM_004982.4:p.S422L

Associated Papers

Contemporary Perspectives on J-Wave Syndromes: An Expert Consensus Statement.

Nademanee K et al.

Journal of Arrhythmia, 2026

Genetic Basis of Brugada Syndrome.

Xie X et al.

Biomedicines, 2025

Primary Electrical Heart Disease-Principles of Pathophysiology and Genetics.

Badura K et al.

International Journal of Molecular Sciences, 2024

Precision Medicine and Cardiac Channelopathies: Human iPSCs Take the Lead.

Sebastian SA et al.

Current Problems in Cardiology, 2023

Hypoxia Promotes Atrial Tachyarrhythmias via Opening of ATP-Sensitive Potassium Channels.

Specterman MJ et al.

Circulation. Arrhythmia and Electrophysiology, 2023

Personalized Therapeutics for KATP-Dependent Pathologies.

Nichols CG

Annual Review of Pharmacology and Toxicology, 2023

Kir6.1 and SUR2B in Cantú syndrome.

McClenaghan C et al.

American Journal of Physiology. Cell Physiology, 2022

Why Is There an Increased Risk for Sudden Cardiac Death in Patients With Early Repolarization Syndrome?

Yakkali S et al.

Cureus, 2022

Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.

Coyote-Maestas W et al.

Elife, 2022

35639599 (PubMed )
Supplement: elife-76903-data1.zip › SourceData › input_data › KCNJ_Clinvar_0325322_edited_annotations_.xlsx › clinvar_KCNJx_0325322

Case Report: Loss-of-Function ABCC9 Genetic Variant Associated With Ventricular Fibrillation.

Zaytseva A et al.

Frontiers in Genetics, 2022

Functional Regulation of KATP Channels and Mutant Insight Into Clinical Therapeutic Strategies in Cardiovascular Diseases.

Wang Z et al.

Frontiers in Pharmacology, 2022

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S1

Brugada syndrome.

Korlipara H et al.

Acta Cardiologica, 2021

Atrial fibrillation-a complex polygenetic disease.

Andersen JH et al.

European Journal of Human Genetics : Ejhg, 2021

33279945 (PubMed )
Supplement: 41431_2020_784_MOESM3_ESM.xlsx › Sheet1

Precision Medicine Approaches to Cardiac Arrhythmias: JACC Focus Seminar 4/5.

Giudicessi JR et al.

Journal of the American College of Cardiology, 2021

The Pharmacology of ATP-Sensitive K+ Channels (KATP).

Li Y et al.

Handbook of Experimental Pharmacology, 2021

Susceptibility to Ventricular Arrhythmias Resulting from Mutations in FKBP1B, PXDNL, and SCN9A Evaluated in hiPSC Cardiomyocytes.

Barajas-Martinez H et al.

Stem Cells International, 2020

KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern.

Teumer A et al.

Jci Insight, 2019

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

van Lint FHM et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019

30847666 (PubMed )
Supplement: 12471_2019_1250_MOESM2_ESM.xlsx › Blad1

Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.

Sahlin E et al.

Plos One, 2019

Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome.

Hosseini SM et al.

Circulation, 2018

ATP-Sensitive Potassium Channels and Their Physiological and Pathophysiological Roles.

Tinker A et al.

Comprehensive Physiology, 2018

Ectopic overexpression of Kir6.1 in the mouse heart impacts on the life expectancy.

Watanabe Y et al.

Scientific Reports, 2018

Mechanisms Underlying the Actions of Antidepressant and Antipsychotic Drugs That Cause Sudden Cardiac Arrest.

Sicouri S et al.

Arrhythmia & Electrophysiology Review, 2018

J wave syndromes as a cause of malignant cardiac arrhythmias.

Di Diego JM et al.

Pacing and Clinical Electrophysiology : Pace, 2018

Mexiletine rescues a mixed biophysical phenotype of the cardiac sodium channel arising from the SCN5A mutation, N406K, found in LQT3 patients.

Hu RM et al.

Channels (austin, Tex.), 2018

Prognosis, risk stratification, and management of asymptomatic individuals with Brugada syndrome: A systematic review.

Letsas KP et al.

Pacing and Clinical Electrophysiology : Pace, 2017

Electrophysiological analyses of transgenic mice overexpressing KCNJ8 with S422L mutation in cardiomyocytes.

Watanabe Y et al.

Journal of Pharmacological Sciences, 2017

Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.

Proost D et al.

The Journal of Molecular Diagnostics : Jmd, 2017

Brugada syndrome: a fatal disease with complex genetic etiologies - still a long way to go.

Wu Y et al.

Forensic Sciences Research, 2017

A multiplex PCR strategy to screen for known mutations in families with sudden cardiac death burden.

Duong G et al.

Journal of Biological Methods, 2017

Long-Term Outcome of Patients Initially Diagnosed With Idiopathic Ventricular Fibrillation: A Descriptive Study.

Visser M et al.

Circulation. Arrhythmia and Electrophysiology, 2016

Atrial arrhythmias in inherited arrhythmogenic disorders.

Hasdemir C

Journal of Arrhythmia, 2016

Brugada Syndrome and Early Repolarisation: Distinct Clinical Entities or Different Phenotypes of the Same Genetic Disease?

Conte G et al.

Arrhythmia & Electrophysiology Review, 2016

Adenosine Triphosphate-Sensitive Potassium Currents in Heart Disease and Cardioprotection.

Nichols CG

Cardiac Electrophysiology Clinics, 2016

Electrocardiographic Early Repolarization: A Scientific Statement From the American Heart Association.

Patton KK et al.

Circulation, 2016

A novel mutation in the SCN5A gene contributes to arrhythmogenic characteristics of early repolarization syndrome.

Guo Q et al.

International Journal of Molecular Medicine, 2016

The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance.

Gourraud JB et al.

Frontiers in Cardiovascular Medicine, 2016

Early Repolarization Syndrome; Mechanistic Theories and Clinical Correlates.

Mercer BN et al.

Frontiers in Physiology, 2016

Electrophysiologic consequences of KATP gain of function in the heart: Conduction abnormalities in Cantu syndrome.

Levin MD et al.

Heart Rhythm, 2015

Ankyrin-2 variants associated with idiopathic ventricular fibrillation storm in patients with intermittent early repolarization pattern.

Krogh Broendberg A et al.

Heartrhythm Case Reports, 2015

Genetics of sudden cardiac death.

Bezzina CR et al.

Circulation Research, 2015

Examining rare and low-frequency genetic variants previously associated with lone or familial forms of atrial fibrillation in an electronic medical record system: a cautionary note.

Weeke P et al.

Circulation. Cardiovascular Genetics, 2015

Brugada syndrome risk loci seem protective against atrial fibrillation.

Andreasen L et al.

European Journal of Human Genetics : Ejhg, 2014

Evaluation of genes encoding for the transient outward current (Ito) identifies the KCND2 gene as a cause of J-wave syndrome associated with sudden cardiac death.

Perrin MJ et al.

Circulation. Cardiovascular Genetics, 2014

Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndrome.

Juang JM et al.

Scientific Reports, 2014

Cantú syndrome resulting from activating mutation in the KCNJ8 gene.

Cooper PE et al.

Human Mutation, 2014

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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."