Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand.
Walsh R et al.
Circulation, 2025
Brugada syndrome in infants (<12 months): A case report and literature review.
Umapathi KK et al.
Pacing and Clinical Electrophysiology : Pace, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
An Adolescent Patient with Sick Sinus Syndrome Complicated by Hypothyroidism Carrying an SCN5A Variant.
Yamane H et al.
International Heart Journal, 2022
Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.
Liu YX et al.
Frontiers in Cardiovascular Medicine, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Novel SCN5A variants identified in a group of Iranian Brugada syndrome patients.
Ghaffari T et al.
Functional & Integrative Genomics, 2021
Allelic Dropout Is a Common Phenomenon That Reduces the Diagnostic Yield of PCR-Based Sequencing of Targeted Gene Panels.
Shestak AG et al.
Frontiers in Genetics, 2021
Sporadic Erythromelalgia Associated with a Homozygous Carrier of Common Missense Polymorphism in SCN9A Gene Coding for NaV1.7 Voltage-gated Sodium Channel.
Janicki PK et al.
Cureus, 2019
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
An automated microfluidic DNA microarray platform for genetic variant detection in inherited arrhythmic diseases.
Huang SH et al.
The Analyst, 2018
A Report of Brugada Syndrome Presenting with Cardiac Arrest Triggered by Verapamil Intoxication.
Yakut K et al.
Balkan Medical Journal, 2017
A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.
Nishimura M et al.
Bmc Medical Genetics, 2017
Considerations when using next-generation sequencing for genetic diagnosis of long-QT syndrome in the clinical testing laboratory.
Chae H et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
Loss-of-Function SCN5A Mutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture.
Chiang DY et al.
Circulation. Arrhythmia and Electrophysiology, 2015
Absence of family history and phenotype-genotype correlation in pediatric Brugada syndrome: more burden to bear in clinical and genetic diagnosis.
Daimi H et al.
Pediatric Cardiology, 2015
Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.
Selga E et al.
Plos One, 2015
Evaluation of a new high-throughput next-generation sequencing method based on a custom AmpliSeq™ library and ion torrent PGM™ sequencing for the rapid detection of genetic variations in long QT syndrome.
Millat G et al.
Molecular Diagnosis & Therapy, 2014
Evaluation of a new NGS method based on a custom AmpliSeq library and Ion Torrent PGM sequencing for the fast detection of genetic variations in cardiomyopathies.
Millat G et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
Epicardial ablation for prevention of ventricular fibrillation in a patient with Brugada syndrome.
Cortez-Dias N et al.
Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology, 2014
Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q.
Nair K et al.
Heart Rhythm, 2012
Novel sodium channel SCN5A mutations in Brugada syndrome patients from Greece.
Kotta CM et al.
International Journal of Cardiology, 2010
Association of human SCN5A polymorphisms with idiopathic ventricular arrhythmia in a Chinese Han cohort.
Fang DH et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2008
Genetic polymorphisms and haplotypes of the human cardiac sodium channel alpha subunit gene (SCN5A) in Japanese and their association with arrhythmia.
Maekawa K et al.
Annals of Human Genetics, 2005
Effects of mutations and genetic overlap in inherited long-QT and Brugada arrhythmia syndromes.
Kotta CM et al.
Hellenic Journal of Cardiology : Hjc = Hellenike Kardiologike Epitheorese, 0
Natural history of Brugada syndrome in a patient with congenital heart disease.
Silva D et al.
Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology, 0