ArticleScientific reports2014
Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndrome.
Article in Scientific reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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33 citing papers in PubMed, 67 citations in OpenAlex.
- Expanding the phenotypic and genotypic spectrum ofBrain communications · 2026Article
- Genetic Basis of Brugada Syndrome.Biomedicines · 2025Review
- Clinical manifestations, genetic profiles, and sudden cardiac arrest in pediatric hypertrophic cardiomyopathy: Challenges of risk prediction for initial sudden cardiac arrest presentations.Heart rhythm O2 · 2025Article
- Review
- The cardiac blood transcriptome predicts de novo onset of atrial fibrillation in heart failure.Journal of molecular and cellular cardiology plus · 2024Article
- Interaction Between HCN and Slack Channels Regulates mPFC Pyramidal Cell Excitability in Working Memory Circuits.Molecular neurobiology · 2024Article
- Gene mutations in comorbidity of epilepsy and arrhythmia.Journal of neurology · 2023Review
- Diverse functions of the inward-rectifying potassium channel Kir5.1 and its relationship with human diseases.Frontiers in physiology · 2023Review
- Kir5.1 channels: potential role in epilepsy and seizure disorders.American journal of physiology. Cell physiology · 2022Review
- Inwardly rectifying potassium channel 5.1: Structure, function, and possible roles in diseases.Genes & diseases · 2021Review
- The Functional Properties, Physiological Roles, Channelopathy and Pharmacological Characteristics of the Slack (KCNT1) Channel.Advances in experimental medicine and biology · 2021Review
- Deletion ofFrontiers in cell and developmental biology · 2021Article
- Application of graphical lasso in estimating network structure in gene set.Annals of translational medicine · 2020Article
- Overcoming the challenges of imputation of rare variants in a Taiwanese cohort.Translational cancer research · 2020Article
- GSTM3 variant is a novel genetic modifier in Brugada syndrome, a disease with risk of sudden cardiac death.EBioMedicine · 2020Article
- Epilepsy and brain channelopathies from infancy to adulthood.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Review
- Phactr1 regulates Slack (KCNT1) channels via protein phosphatase 1 (PP1).FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2020Article
- Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability.Neurology. Genetics · 2019Article
- Analyses of epithelial NaThe Journal of biological chemistry · 2019Article
- Genetic mutation of Kcnj16 identifies Kir5.1-containing channels as key regulators of acute and chronic pH homeostasis.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Article
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Authors and funding
14 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Brugada syndrome (BrS) is one of the ion channelopathies associated with sudden cardiac death (SCD). The most common BrS-associated gene (SCN5A) only accounts for approximately 20-25% of BrS patients. This study aims to identify novel mutations across human ion channels in non-familial BrS patients without SCN5A variants through disease-targeted sequencing. We performed disease-targeted multi-gene sequencing across 133 human ion channel genes and 12 reported BrS-associated genes in 15 unrelated, non-familial BrS patients without SCN5A variants. Candidate variants were validated by mass spectrometry and Sanger sequencing. Five de novo mutations were identified in four genes (SCNN1A, KCNJ16, KCNB2, and KCNT1) in three BrS patients (20%). Two of the three patients presented SCD and one had syncope. Interestingly, the two patients presented with SCD had compound mutations (SCNN1A:Arg350Gln and KCNB2:Glu522Lys; SCNN1A:Arg597* and KCNJ16:Ser261Gly). Importantly, two SCNN1A mutations were identified from different families. The KCNT1:Arg1106Gln mutation was identified in a patient with syncope. Bioinformatics algorithms predicted severe functional interruptions in these four mutation loci, suggesting their pivotal roles in BrS. This study identified four novel BrS-associated genes and indicated the effectiveness of this disease-targeted sequencing across ion channel genes for non-familial BrS patients without SCN5A variants.
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