References
- Grant AO. Molecular biology of sodium channels and their role in cardiac arrhythmias. Am J Med 2001;110:296-305. https://doi.org/10.1016/S0002-9343(00)00714-2
- Shin CH, Kim NH, Kim KH, Yoo SS, Choi YB, Oh SK, et al. A family with a missense mutation in the SCN5A gene. Korean Circ J 2003;33:150-154.
- Tan HL, Bezzina CR, Smits JP, Verkerk AO, Wilde AA. Genetic control of sodium channel function. Cardiovasc Res 2003;57:961-973. https://doi.org/10.1016/S0008-6363(02)00714-9
- Schott JJ, Alshinawi C, Kyndt F, Probst V, Hoorntje TM, Hulsbeek M, et al. Cardiac conduction defects associate with mutations in SCN5A. Nat Genet 1999;23:20-21.
- McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University, National Center for Biotechnology Information, National Library of Medicine. Bethesda, MD: Online Mendelian Inheritance in Man, OMIM. Accessed 2001 Dec 5. Available from: http://www.ncbi.nlm.nih.gov/omim/.
- Brink PA, Ferreira A, Moolman JC, Weymar HW, van der Merwe PL, Corfield VA. Gene for progressive familial heart block type I maps to chromosome 19q13. Circulation 1995;91:1633-1640. https://doi.org/10.1161/01.CIR.91.6.1633
- Gellens ME, George AL Jr, Chen LQ, Chahine M, Horn R, Barchi RL, et al. Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel. Proc Natl Acad Sci U S A 1992;89:554-558. https://doi.org/10.1073/pnas.89.2.554
- Yang P, Kanki H, Drolet B, Yang T, Wei J, Viswanathan PC, et al. Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation 2002;105:1943-1948. https://doi.org/10.1161/01.CIR.0000014448.19052.4C
- Iwasa H, Itoh T, Nagai R, Nakamura Y, Tanaka T. Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population. J Hum Genet 2000;45:182-183. https://doi.org/10.1007/s100380050207
- Wattanasirichaigoon D, Vesely MR, Duggal P, Levine JC, Blume ED, Wolff GS, et al. Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations. Am J Med Genet 1999;86:470-476. https://doi.org/10.1002/(SICI)1096-8628(19991029)86:5<470::AID-AJMG13>3.0.CO;2-Y
- Wang DW, Viswanathan PC, Balser JR, George AL Jr, Benson DW. Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. Circulation 2002;105:341-346. https://doi.org/10.1161/hc0302.102592
- Tan HL, Bink-Boelkens MT, Bezzina CR, Viswanathan PC, Beaufort-Krol GC, van Tintelen PJ, et al. A sodium-channel mutation causes isolated cardiac conduction disease. Nature 2001;409:1043-1047. https://doi.org/10.1038/35059090
- Hu D, Barajas-Martinez H, Nesterenko VV, Pfeiffer R, Guerchicoff A, Cordeiro JM, et al. Dual variation in SCN5A and CACNB2b underlies the development of cardiac conduction disease without Brugada syndrome. Pacing Clin Electrophysiol 2010;33:274-285. https://doi.org/10.1111/j.1540-8159.2009.02642.x
- Kyndt F, Probst V, Potet F, Demolombe S, Chevallier JC, Baro I, et al. Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. Circulation 2001;104:3081-3086. https://doi.org/10.1161/hc5001.100834
- Chen JZ, Xie XD, Wang XX, Tao M, Shang YP, Guo XG. Single nucleotide polymorphisms of the SCN5A gene in Han Chinese and their relation with Brugada syndrome. Chin Med J (Engl) 2004;117:652-656.
- Shin DJ, Jang Y, Park HY, Lee JE, Yang K, Kim E, et al. Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome. J Hum Genet 2004;49:573-578. https://doi.org/10.1007/s10038-004-0182-z
- Takahata T, Yasui-Furukori N, Sasaki S, Igarashi T, Okumura K, Munakata A, et al. Nucleotide changes in the translated region of SCN5A from Japanese patients with Brugada syndrome and control subjects. Life Sci 2003;72:2391-2399. https://doi.org/10.1016/S0024-3205(03)00121-8
- Ye B, Valdivia CR, Ackerman MJ, Makielski JC. A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation. Physiol Genomics 2003;12:187-193. https://doi.org/10.1152/physiolgenomics.00117.2002
- Viswanathan PC, Benson DW, Balser JR. A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. J Clin Invest 2003;111:341-346. https://doi.org/10.1172/JCI200316879
- Sun A, Xu L, Wang S, Wang K, Huang W, Wang Y, et al. SCN5A R1193Q polymorphism associated with progressive cardiac conduction defects and long QT syndrome in a Chinese family. J Med Genet 2008;45:127-128.
- Hwang HW, Chen JJ, Lin YJ, Shieh RC, Lee MT, Hung SI, et al. R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese. J Med Genet 2005;42:e7. https://doi.org/10.1136/jmg.2004.027995
Cited by
- First-degree atrioventricular block is associated with advanced atrioventricular block, atrial fibrillation and left ventricular dysfunction in patients with hypertension vol.32, pp.5, 2014, https://doi.org/10.1097/HJH.0000000000000113
- Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China vol.17, pp.1, 2016, https://doi.org/10.1186/s12863-016-0379-0
- An Investigation of the Association of the H558R Polymorphism of the SCN5A Gene with Idiopathic Cardiac Conduction Disorders vol.19, pp.6, 2015, https://doi.org/10.1089/gtmb.2015.0012
- Lack of modulatory effect of the SCN5A R1193Q polymorphism on cardiac fast Na+ current at body temperature vol.13, pp.11, 2018, https://doi.org/10.1371/journal.pone.0207437
- Feasibility of analysis of the SCN5A gene in paraffin embedded samples in sudden infant death cases at the Pretoria Medico-Legal Laboratory, South Africa vol.14, pp.3, 2018, https://doi.org/10.1007/s12024-018-9995-5