ArticleJournal of the American Heart Association2016
Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome.
Article in Journal of the American Heart Association, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 27 citations in OpenAlex.
- Influence of e-cigarettes and their constituents on cardiac rhythm and arrhythmias.American journal of physiology. Heart and circulatory physiology · 2026Review
- Genetic Basis of Brugada Syndrome.Biomedicines · 2025Review
- Brugada syndrome.Nature reviews. Disease primers · 2025Review
- Brugada Syndrome: More than a Monogenic Channelopathy.Biomedicines · 2023Review
- Molecular Remodeling of Cardiac Sinus Node Associated with Acute Chagas Disease Myocarditis.Microorganisms · 2021Article
- Modelling sudden cardiac death risks factors in patients with coronavirus disease of 2019: the hydroxychloroquine and azithromycin case.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2021Article
- Deletion of Kvβ2 (AKR6) Attenuates Isoproterenol Induced Cardiac Injury with Links to Solute Carrier Transporter SLC41a3 and Circadian Clock Genes.Metabolites · 2021Article
- Infanticide vs. inherited cardiac arrhythmias.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2021Article
- Article
- Brugada syndrome: A comprehensive review of pathophysiological mechanisms and risk stratification strategies.International journal of cardiology. Heart & vasculature · 2020Review
- Metabolic regulation of Kv channels and cardiac repolarization by Kvβ2 subunits.Journal of molecular and cellular cardiology · 2019Article
- RRAD mutation causes electrical and cytoskeletal defects in cardiomyocytes derived from a familial case of Brugada syndrome.European heart journal · 2019Article
- A case report of Brugada-like ST-segment elevation probably due to coronary vasospasm.Medicine · 2018Article
- Ion Channel Disorders and Sudden Cardiac Death.International journal of molecular sciences · 2018Review
- Coronary microvascular Kv1 channels as regulatory sensors of intracellular pyridine nucleotide redox potential.Microcirculation (New York, N.Y. : 1994) · 2018Review
- KFrontiers in physiology · 2018Article
- Myriad roles of voltage-activated potassium channel subunit Kvβ1.1 in the heart.American journal of physiology. Heart and circulatory physiology · 2017Article
- Noninvasive quantification of blood potassium concentration from ECG in hemodialysis patients.Scientific reports · 2017Article
- Electrophysiological Mechanisms of Brugada Syndrome: Insights from Pre-clinical and Clinical Studies.Frontiers in physiology · 2016Review
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Authors and funding
24 authors at 7 institutions in 3 countries.
Funding
Abstract
backgroundThe Brugada syndrome is an inherited cardiac arrhythmia associated with high risk of sudden death. Although 20% of patients with Brugada syndrome carry mutations in SCN5A, the molecular mechanisms underlying this condition are still largely unknown. METHODS AND
resultsWe combined whole-exome sequencing and linkage analysis to identify the genetic variant likely causing Brugada syndrome in a pedigree for which SCN5A mutations had been excluded. This approach identified 6 genetic variants cosegregating with the Brugada electrocardiographic pattern within the pedigree. In silico gene prioritization pointed to 1 variant residing in KCNAB2, which encodes the voltage-gated K(+) channel β2-subunit (Kvβ2-R12Q). Kvβ2 is widely expressed in the human heart and has been shown to interact with the fast transient outward K(+) channel subunit Kv4.3, increasing its current density. By targeted sequencing of the KCNAB2 gene in 167 unrelated patients with Brugada syndrome, we found 2 additional rare missense variants (L13F and V114I). We then investigated the physiological effects of the 3 KCNAB2 variants by using cellular electrophysiology and biochemistry. Patch-clamp experiments performed in COS-7 cells expressing both Kv4.3 and Kvβ2 revealed a significant increase in the current density in presence of the R12Q and L13F Kvβ2 mutants. Although biotinylation assays showed no differences in the expression of Kv4.3, the total and submembrane expression of Kvβ2-R12Q were significantly increased in comparison with wild-type Kvβ2.
conclusionsAltogether, our results indicate that Kvβ2 dysfunction can contribute to the Brugada electrocardiographic pattern.
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