Rahm A-K, Lugenbiel P, Schweizer PA, Katus HA, Thomas D. Role of ion channels in heart failure and channelopathies. Biophys Rev. 2018;10:1097–106.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Behere SP, Weindling SN. Inherited arrhythmias: the cardiac channelopathies. Ann Pediatr Cardiol. 2015;8:210–20.

Article  PubMed  PubMed Central  Google Scholar 

Fernández-Falgueras A, Sarquella-Brugada G, Brugada J, Brugada R, Campuzano O. Cardiac channelopathies and sudden death: recent clinical and genetic advances. Biology [Internet]. 2017 Jan 29;6. Available from: https://doi.org/10.3390/biology6010007

Schwartz PJ, Stramba-Badiale M, Crotti L, Pedrazzini M, Besana A, Bosi G, et al. Prevalence of the congenital long-QT syndrome. Circulation. 2009;120:1761–7.

Article  PubMed  PubMed Central  Google Scholar 

Brugada J, Campuzano O, Arbelo E, Sarquella-Brugada G, Brugada R. Present status of Brugada syndrome: JACC state-of-the-art review. J Am Coll Cardiol. 2018;72:1046–59.

Article  PubMed  Google Scholar 

Funada A, Hayashi K, Ino H, Fujino N, Uchiyama K, Sakata K, et al. Assessment of QT intervals and prevalence of short QT syndrome in Japan. Clin Cardiol. 2008;31:270–4.

Article  PubMed  PubMed Central  Google Scholar 

Leenhardt A, Denjoy I, Guicheney P. Catecholaminergic polymorphic ventricular tachycardia. Circ Arrhythm Electrophysiol. 2012;5:1044–52.

Article  PubMed  Google Scholar 

Bajaj A, Senthivel V, Bhoyar R, Jain A, Imran M, Rophina M, et al. 1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants. Hum Genom. 2022;16:30.

Article  CAS  Google Scholar 

Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED, Keating MT. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell 1995;80:795–803.

Article  CAS  PubMed  Google Scholar 

Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 1995;80:805–11.

Article  CAS  PubMed  Google Scholar 

Campuzano O, Beltrán-Álvarez P, Iglesias A, Scornik F, Pérez G, Brugada R. Genetics and cardiac channelopathies. Genet Med. 2010;12:260–7.

Musunuru K, Hershberger RE, Day SM, Klinedinst NJ, Landstrom AP, Parikh VN, et al. Genetic testing for inherited cardiovascular diseases: a scientific statement from the American Heart Association. Circ Genom Precis Med. 2020;13:e000067.

Article  PubMed  Google Scholar 

Zeppenfeld K, Tfelt-Hansen J, de Riva M, Winkel BG, Behr ER, Blom NA, et al. 2022 ESC guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Eur Heart J 2022;43:3997–4126.

Article  PubMed  Google Scholar 

Wilde AAM, Semsarian C, Márquez MF, Sepehri Shamloo A, Ackerman MJ, Ashley EA, et al. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases. Heart Rhythm. 2022;19:e1–60.

Article  PubMed  Google Scholar 

Adler A, Novelli V, Amin AS, Abiusi E, Care M, Nannenberg EA, et al. An international, multicentered, evidence-based reappraisal of genes reported to cause congenital long QT syndrome. Circulation 2020;141:418–28.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hosseini SM, Kim R, Udupa S, Costain G, Jobling R, Liston E, et al. Reappraisal of reported genes for sudden arrhythmic death: evidence-based evaluation of gene validity for Brugada syndrome. Circulation 2018;138:1195–205.

Article  PubMed  PubMed Central  Google Scholar 

Walsh R, Adler A, Amin AS, Abiusi E, Care M, Bikker H, et al. Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death. Eur Heart J 2022;43:1500–10.

Article  CAS  PubMed  Google Scholar 

Schwartz PJ, Ackerman MJ, George AL Jr, Wilde AAM. Impact of genetics on the clinical management of channelopathies. J Am Coll Cardiol. 2013;62:169–80.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kapplinger JD, Tester DJ, Alders M, Benito B, Berthet M, Brugada J, et al. An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010;7:33–46.

Article  PubMed  Google Scholar 

Tester DJ, Kopplin LJ, Will ML, Ackerman MJ. Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. Heart Rhythm. 2005;2:1099–105.

Article  PubMed  Google Scholar 

Leung KSK, Huang H, Chung CT, Radford D, Lakhani I, Li CKH, et al. Historical perspective and recent progress in cardiac ion channelopathies research and clinical practice in Hong Kong. J Inter Card Electrophysiol. 2023;24:1–10.

Google Scholar 

Ge HY, Li XM, Jiang H, Li MT, Zhang Y, Liu HJ. [Clinical characteristics and treatment of congenital long QT syndrome in 58 children]. Zhonghua Er Ke Za Zhi. 2019;57:272–6.

CAS  PubMed  Google Scholar 

Jiang H, Li X-M, Ge H-Y, Zhang Y, Liu H-J, Li M-T. Investigation of catecholaminergic polymorphic ventricular tachycardia children in China: clinical characteristics, delay to diagnosis, and misdiagnosis. Chin Med J. 2018;131:2864–5.

PubMed  PubMed Central  Google Scholar 

Vyas B, Puri RD, Namboodiri N, Saxena R, Nair M, Balakrishnan P, et al. Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes. Indian Pacing Electrophysiol J 2016;16:8–18.

Article  PubMed  PubMed Central  Google Scholar 

Dellefave-Castillo LM, Cirino AL, Callis TE, Esplin ED, Garcia J, Hatchell KE, et al. Assessment of the diagnostic yield of combined cardiomyopathy and arrhythmia genetic testing. JAMA Cardiol. 2022;7:966–74.

Article  PubMed  PubMed Central  Google Scholar 

Ewans LJ, Minoche AE, Schofield D, Shrestha R, Puttick C, Zhu Y, et al. Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis. Eur J Hum Genet. 2022;30:1121–31.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Di Resta C, Berg J, Villatore A, Maia M, Pili G, Fioravanti F, et al. Concealed substrates in Brugada syndrome: isolated channelopathy or associated cardiomyopathy? Genes [Internet]. 2022 Sep 28;13. Available from: https://doi.org/10.3390/genes13101755.

Barc J, Tadros R, Glinge C, Chiang DY, Jouni M, Simonet F, et al. Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility. Nat Genet. 2022;54:232–9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

GUaRDIAN Consortium, Sivasubbu S, Scaria V. Genomics of rare genetic diseases-experiences from India. Hum Genom. 2019;14:52.

Google Scholar 

Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16:1215.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bolger AM, Lohse M, Usadel B. Trimmomatic: a flexible trimmer for Illumina sequence data. Bioinformatics 2014;30:2114–20.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Li H. Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM. arXiv:1303.3997v2 [Preprint]. 2013 [cited 2013 May 26]: [3 p.]. Available from: http://arxiv.org/abs/1303.3997

Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, et al. The sequence alignment/map format and SAMtools. Bioinformatics 2009;25:2078–9.

Article  PubMed  PubMed Central  Google Scholar 

McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The genome analysis toolkit: a mapreduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20:1297–303.

Article  CAS  PubMed  PubMed Central