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2. Gene symbol: SCN5A. Crotti L; Ferrandi C; Insolia R; Pedrazzini M; Tosin L; Veia A; Turco A; De Ferrari GM; Schwartz PJ Hum Genet; 2007 Feb; 120(6):911-2. PubMed ID: 17438607 [No Abstract] [Full Text] [Related]
3. Gene symbol: KCNQ1. Crotti L; Insolia R; Pedrazzini M; Ferrandi C; Tosin L; Moncalvo C; Turco A; Agnetti A; De Ferrari GM; Schwartz PJ Hum Genet; 2007 Feb; 120(6):912. PubMed ID: 17438609 [No Abstract] [Full Text] [Related]
4. A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT sydrome. Mutations in brief no. 140. Online. Yamagishi H; Furutani M; Kamisago M; Morikawa Y; Kojima Y; Hino Y; Furutani Y; Kimura M; Imamura S; Takao A; Momma K; Matsuoka R Hum Mutat; 1998; 11(6):481. PubMed ID: 10200053 [TBL] [Abstract][Full Text] [Related]
5. Postmortem molecular analysis of KCNQ1 and SCN5A genes in sudden unexplained death in young Australians. Doolan A; Langlois N; Chiu C; Ingles J; Lind JM; Semsarian C Int J Cardiol; 2008 Jun; 127(1):138-41. PubMed ID: 17544529 [TBL] [Abstract][Full Text] [Related]
8. Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes. Mank-Seymour AR; Richmond JL; Wood LS; Reynolds JM; Fan YT; Warnes GR; Milos PM; Thompson JF Am Heart J; 2006 Dec; 152(6):1116-22. PubMed ID: 17161064 [TBL] [Abstract][Full Text] [Related]
11. Clinical heterogeneity in sodium channelopathies. What is the meaning of carrying a genetic mutation? Oliva A; Bjerregaard P; Hong K; Evans S; Vernooy K; McCormack J; Brugada J; Brugada P; Pascali VL; Brugada R Cardiology; 2008; 110(2):116-22. PubMed ID: 17971661 [TBL] [Abstract][Full Text] [Related]
12. A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation. Makiyama T; Akao M; Shizuta S; Doi T; Nishiyama K; Oka Y; Ohno S; Nishio Y; Tsuji K; Itoh H; Kimura T; Kita T; Horie M J Am Coll Cardiol; 2008 Oct; 52(16):1326-34. PubMed ID: 18929244 [TBL] [Abstract][Full Text] [Related]
13. Substitution of a conserved alanine in the domain IIIS4-S5 linker of the cardiac sodium channel causes long QT syndrome. Smits JP; Veldkamp MW; Bezzina CR; Bhuiyan ZA; Wedekind H; Schulze-Bahr E; Wilde AA Cardiovasc Res; 2005 Aug; 67(3):459-66. PubMed ID: 16039271 [TBL] [Abstract][Full Text] [Related]
14. Cardiac sodium channel dysfunction in sudden infant death syndrome. Wang DW; Desai RR; Crotti L; Arnestad M; Insolia R; Pedrazzini M; Ferrandi C; Vege A; Rognum T; Schwartz PJ; George AL Circulation; 2007 Jan; 115(3):368-76. PubMed ID: 17210841 [TBL] [Abstract][Full Text] [Related]
16. Congenital long QT syndrome and 2:1 atrioventricular block with a mutation of the SCN5A gene. Miura M; Yamagishi H; Morikawa Y; Matsuoka R Pediatr Cardiol; 2003; 24(1):70-2. PubMed ID: 12574983 [TBL] [Abstract][Full Text] [Related]
17. The G314S KCNQ1 mutation exerts a dominant-negative effect on expression of KCNQ1 channels in oocytes. Li W; Du R; Wang QF; Tian L; Yang JG; Song ZF Biochem Biophys Res Commun; 2009 May; 383(2):206-9. PubMed ID: 19348785 [TBL] [Abstract][Full Text] [Related]
18. Long QT syndrome: a double hit hurts more. Wilde AA Heart Rhythm; 2010 Oct; 7(10):1419-20. PubMed ID: 20601150 [No Abstract] [Full Text] [Related]