Splawski I - Search Results

1

Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia.

Splawski I, Timothy KW, Tateyama M, Clancy CE, Malhotra A, Beggs AH, Cappuccio FP, Sagnella GA, Kass RS, Keating MT. Splawski I, et al. Science. 2002 Aug 23;297(5585):1333-6. doi: 10.1126/science.1073569. Science. 2002. PMID: 12193783

2

Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.

Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, Sanguinetti MC, Keating MT. Splawski I, et al. Proc Natl Acad Sci U S A. 2005 Jun 7;102(23):8089-96; discussion 8086-8. doi: 10.1073/pnas.0502506102. Epub 2005 Apr 29. Proc Natl Acad Sci U S A. 2005. PMID: 15863612 Free PMC article.

3

A cardiac arrhythmia syndrome caused by loss of ankyrin-B function.

Mohler PJ, Splawski I, Napolitano C, Bottelli G, Sharpe L, Timothy K, Priori SG, Keating MT, Bennett V. Mohler PJ, et al. Among authors: splawski i. Proc Natl Acad Sci U S A. 2004 Jun 15;101(24):9137-42. doi: 10.1073/pnas.0402546101. Epub 2004 Jun 3. Proc Natl Acad Sci U S A. 2004. PMID: 15178757 Free PMC article.

4

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.

Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, Napolitano C, Schwartz PJ, Joseph RM, Condouris K, Tager-Flusberg H, Priori SG, Sanguinetti MC, Keating MT. Splawski I, et al. Cell. 2004 Oct 1;119(1):19-31. doi: 10.1016/j.cell.2004.09.011. Cell. 2004. PMID: 15454078 Free article.

5

Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing.

Ackerman MJ, Splawski I, Makielski JC, Tester DJ, Will ML, Timothy KW, Keating MT, Jones G, Chadha M, Burrow CR, Stephens JC, Xu C, Judson R, Curran ME. Ackerman MJ, et al. Among authors: splawski i. Heart Rhythm. 2004 Nov;1(5):600-7. doi: 10.1016/j.hrthm.2004.07.013. Heart Rhythm. 2004. PMID: 15851227

6

Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.

Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, VanRaay TJ, Shen J, Timothy KW, Vincent GM, de Jager T, Schwartz PJ, Toubin JA, Moss AJ, Atkinson DL, Landes GM, Connors TD, Keating MT. Wang Q, et al. Among authors: splawski i. Nat Genet. 1996 Jan;12(1):17-23. doi: 10.1038/ng0196-17. Nat Genet. 1996. PMID: 8528244

7

Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

Splawski I, Shen J, Timothy KW, Vincent GM, Lehmann MH, Keating MT. Splawski I, et al. Genomics. 1998 Jul 1;51(1):86-97. doi: 10.1006/geno.1998.5361. Genomics. 1998. PMID: 9693036

8

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Splawski I, Shen J, Timothy KW, Lehmann MH, Priori S, Robinson JL, Moss AJ, Schwartz PJ, Towbin JA, Vincent GM, Keating MT. Splawski I, et al. Circulation. 2000 Sep 5;102(10):1178-85. doi: 10.1161/01.cir.102.10.1178. Circulation. 2000. PMID: 10973849

9

Compound mutations: a common cause of severe long-QT syndrome.

Westenskow P, Splawski I, Timothy KW, Keating MT, Sanguinetti MC. Westenskow P, et al. Among authors: splawski i. Circulation. 2004 Apr 20;109(15):1834-41. doi: 10.1161/01.CIR.0000125524.34234.13. Epub 2004 Mar 29. Circulation. 2004. PMID: 15051636

10

A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.

Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED, Keating MT. Curran ME, et al. Among authors: splawski i. Cell. 1995 Mar 10;80(5):795-803. doi: 10.1016/0092-8674(95)90358-5. Cell. 1995. PMID: 7889573 Free article.

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