参考文献/References:
[1] Moss AJ,Schwartz PJ,Crampton RS,et al.The long QT syndrome. Prospective longitudinal study of 328 families[J]. Circulation,1991,84:1136-1134.
[2] Schwartz PJ,Stramba-Badiale M,Crotti L,et al. Prevalence of the congenital long-QT syndrome[J]. Circulation,2009,120:1761-1767.
[3] Schwartz PJ,Ackerman MJ,George AL,et al. Impact of genetics on the clinical management of channelopathies[J]. J Am Coll Cardiol,2013,62:169-180.
[4] Splawski I,Timothy KW,Sharpe LM,et al. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism[J]. Cell,2004,119(1):19-31.
[5] Splawski I,Timothy KW,Decher N,et al. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations[J]. Proc Natl Acad Sci USA,2005,102(23):8089-8096.
[6] Catterall WA. Structure and function of voltage-gated sodium and calcium channels[J]. Curr Opin Neurobiol,1991,1:5-13.
[7] Jane G,Elena B,Charles A,et al. Long QT,syndactyly, joint contracutres, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome[J]. Am J Med Genet A,2012,158A(1):182-187.
[8] Reichenbach H, Meister EM, Theile H. The heart-hand syndrome. A new variant of disorders of heart conduction and syndactylia including osseous changes in hands and feet[J]. Kinderarztl Prax,1992,60: 54-56.
[9] Marks ML, Whisler SL, Clericuzio C, et al. A new form of long QT syndrome associated with syndactyly[J]. J Am Coll Cardiol,1995,25:59-64.
[10] Njoe SM, Wilde AA, van Erven L, et al.Syndactyly and long QT syndrome(CaV1.2 missense mutation G640R)is associated with hypertrophic cardiomyopathy[J]. Heart Rhythm,2005,2:1365-1368.
[11] Fröhler S, Kieslich M, Langnick C, et al. Exome sequencing helped the fine diagnosis two siblings affected with atypical Timothy syndrome(TS2)[J]. BMC Med Genet,2014,15: 48.