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A multicentre study of patients with Timothy syndrome.

Walsh MA, Turner C, Timothy KW, Seller N, Hares DL, James AF, Hancox JC, Uzun O, Boyce D, Stuart AG, Brennan P, Sarton C, McGuire K, Newbury-Ecob RA, Mcleod K.

Europace. 2018 Feb 1;20(2):377-385. doi: 10.1093/europace/euw433.


Timothy Syndrome.

Napolitano C, Splawski I, Timothy KW, Bloise R, Priori SG.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2006 Feb 15 [updated 2015 Jul 16].


Inhibition of late sodium current by mexiletine: a novel pharmotherapeutical approach in timothy syndrome.

Gao Y, Xue X, Hu D, Liu W, Yuan Y, Sun H, Li L, Timothy KW, Zhang L, Li C, Yan GX.

Circ Arrhythm Electrophysiol. 2013 Jun;6(3):614-22. doi: 10.1161/CIRCEP.113.000092. Epub 2013 Apr 11. Review.


Somatic mosaicism contributes to phenotypic variation in Timothy syndrome.

Etheridge SP, Bowles NE, Arrington CB, Pilcher T, Rope A, Wilde AA, Alders M, Saarel EV, Tavernier R, Timothy KW, Tristani-Firouzi M.

Am J Med Genet A. 2011 Oct;155A(10):2578-83. doi: 10.1002/ajmg.a.34223. Epub 2011 Sep 9.


Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome.

Decher N, Renigunta V, Zuzarte M, Soom M, Heinemann SH, Timothy KW, Keating MT, Daut J, Sanguinetti MC, Splawski I.

Cardiovasc Res. 2007 Sep 1;75(4):748-57. Epub 2007 May 10.


Cellular basis for the electrocardiographic and arrhythmic manifestations of Timothy syndrome: effects of ranolazine.

Sicouri S, Timothy KW, Zygmunt AC, Glass A, Goodrow RJ, Belardinelli L, Antzelevitch C.

Heart Rhythm. 2007 May;4(5):638-47. Epub 2007 Jan 7.


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.

Proc Natl Acad Sci U S A. 2005 Jun 7;102(23):8089-96; discussion 8086-8. Epub 2005 Apr 29.


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.

Heart Rhythm. 2004 Nov;1(5):600-7.


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.

Cell. 2004 Oct 1;119(1):19-31.


An intronic mutation causes long QT syndrome.

Zhang L, Vincent GM, Baralle M, Baralle FE, Anson BD, Benson DW, Whiting B, Timothy KW, Carlquist J, January CT, Keating MT, Splawski I.

J Am Coll Cardiol. 2004 Sep 15;44(6):1283-91.


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

Westenskow P, Splawski I, Timothy KW, Keating MT, Sanguinetti MC.

Circulation. 2004 Apr 20;109(15):1834-41. Epub 2004 Mar 29.


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.

Science. 2002 Aug 23;297(5585):1333-6.


Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias.

Schwartz PJ, Priori SG, Spazzolini C, Moss AJ, Vincent GM, Napolitano C, Denjoy I, Guicheney P, Breithardt G, Keating MT, Towbin JA, Beggs AH, Brink P, Wilde AA, Toivonen L, Zareba W, Robinson JL, Timothy KW, Corfield V, Wattanasirichaigoon D, Corbett C, Haverkamp W, Schulze-Bahr E, Lehmann MH, Schwartz K, Coumel P, Bloise R.

Circulation. 2001 Jan 2;103(1):89-95.


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.

Circulation. 2000 Sep 5;102(10):1178-85.


Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes.

Zhang L, Timothy KW, Vincent GM, Lehmann MH, Fox J, Giuli LC, Shen J, Splawski I, Priori SG, Compton SJ, Yanowitz F, Benhorin J, Moss AJ, Schwartz PJ, Robinson JL, Wang Q, Zareba W, Keating MT, Towbin JA, Napolitano C, Medina A.

Circulation. 2000 Dec 5;102(23):2849-55.


MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia.

Abbott GW, Sesti F, Splawski I, Buck ME, Lehmann MH, Timothy KW, Keating MT, Goldstein SA.

Cell. 1999 Apr 16;97(2):175-87.


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

Splawski I, Shen J, Timothy KW, Vincent GM, Lehmann MH, Keating MT.

Genomics. 1998 Jul 1;51(1):86-97.


George M. Cober Lecturer: Mark T. Keating. Molecular basis of the long-QT syndrome associated with deafness.

Splawski I, Timothy KW, Vincent GM, Atkinson DL, Keating MT.

Proc Assoc Am Physicians. 1997 Sep;109(5):504-11.


Molecular basis of the long-QT syndrome associated with deafness.

Splawski I, Timothy KW, Vincent GM, Atkinson DL, Keating MT.

N Engl J Med. 1997 May 29;336(22):1562-7. No abstract available.


Age-gender influence on the rate-corrected QT interval and the QT-heart rate relation in families with genotypically characterized long QT syndrome.

Lehmann MH, Timothy KW, Frankovich D, Fromm BS, Keating M, Locati EH, Taggart RT, Towbin JA, Moss AJ, Schwartz PJ, Vincent GM.

J Am Coll Cardiol. 1997 Jan;29(1):93-9.


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.

Nat Genet. 1996 Jan;12(1):17-23.


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

Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED, Keating MT.

Cell. 1995 Mar 10;80(5):795-803.


The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome.

Vincent GM, Timothy KW, Leppert M, Keating M.

N Engl J Med. 1992 Sep 17;327(12):846-52.


Effects of exercise on heart rate, QT, QTc and QT/QS2 in the Romano-Ward inherited long QT syndrome.

Vincent GM, Jaiswal D, Timothy KW.

Am J Cardiol. 1991 Aug 15;68(5):498-503.


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