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References

These sources were used to develop the Genetics Home Reference gene summary on the SCN5A gene.

Ackerman MJ, Siu BL, Sturner WQ, Tester DJ, Valdivia CR, Makielski JC, Towbin JA. Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA. 2001 Nov 14;286(18):2264-9. PubMed citation
Benson DW, Wang DW, Dyment M, Knilans TK, Fish FA, Strieper MJ, Rhodes TH, George AL Jr. Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest. 2003 Oct;112(7):1019-28. PubMed citation
Chiang CE. Congenital and acquired long QT syndrome. Current concepts and management. Cardiol Rev. 2004 Jul-Aug;12(4):222-34. Review. PubMed citation
Emery, Alan E H; Rimoin, David L; Emery & Rimoin's principles and practice of medical genetics.; 4th ed. / edited by David L. Rimoin ... [et al.]; London ; New York : Churchill Livingstone, 2002. p1423.
Entrez Gene
Gene Review: Brugada Syndrome
Gene Review: Romano-Ward Syndrome
Herfst LJ, Rook MB, Jongsma HJ. Trafficking and functional expression of cardiac Na+ channels. J Mol Cell Cardiol. 2004 Feb;36(2):185-93. Review. PubMed citation
Juang JM, Huang SK. Brugada syndrome--an under-recognized electrical disease in patients with sudden cardiac death. Cardiology. 2004;101(4):157-69. Epub 2004 Feb 12. Review. PubMed citation
Opdal SH, Rognum TO. The sudden infant death syndrome gene: does it exist? Pediatrics. 2004 Oct;114(4):e506-12. PubMed citation
Paulussen AD, Gilissen RA, Armstrong M, Doevendans PA, Verhasselt P, Smeets HJ, Schulze-Bahr E, Haverkamp W, Breithardt G, Cohen N, Aerssens J. Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J Mol Med (Berl). 2004 Mar;82(3):182-8. Epub 2004 Feb 4. PubMed citation
Plant LD, Bowers PN, Liu Q, Morgan T, Zhang T, State MW, Chen W, Kittles RA, Goldstein SA. A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y. J Clin Invest. 2006 Feb;116(2):430-5. PubMed citation
Plant LD, Bowers PN, Liu Q, Morgan T, Zhang T, State MW, Chen W, Kittles RA, Goldstein SA. A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y. J Clin Invest. 2006 Feb;116(2):430-5. PubMed citation
Shimizu W, Aiba T, Kamakura S. Mechanisms of disease: current understanding and future challenges in Brugada syndrome. Nat Clin Pract Cardiovasc Med. 2005 Aug;2(8):408-14. Review. PubMed citation
Tester DJ, Ackerman MJ. Sudden infant death syndrome: how significant are the cardiac channelopathies? Cardiovasc Res. 2005 Aug 15;67(3):388-96. Review. PubMed citation
Towbin JA, Vatta M. Molecular biology and the prolonged QT syndromes. Am J Med. 2001 Apr 1;110(5):385-98. Review. PubMed citation
Vatta M, Dumaine R, Varghese G, Richard TA, Shimizu W, Aihara N, Nademanee K, Brugada R, Brugada J, Veerakul G, Li H, Bowles NE, Brugada P, Antzelevitch C, Towbin JA. Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. Hum Mol Genet. 2002 Feb 1;11(3):337-45. PubMed citation
Viswanathan PC, Balser JR. Inherited sodium channelopathies: a continuum of channel dysfunction. Trends Cardiovasc Med. 2004 Jan;14(1):28-35. Review. PubMed citation
Yang P, Kanki H, Drolet B, Yang T, Wei J, Viswanathan PC, Hohnloser SH, Shimizu W, Schwartz PJ, Stanton M, Murray KT, Norris K, George AL Jr, Roden DM. Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation. 2002 Apr 23;105(16):1943-8. PubMed citation


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