- 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. Kinderarztl Prax 1992;60 (2): 54–56.
- 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. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 2004;119 (1): 19–31.
- Marks ML, Whisler SL, Clericuzio C, Keating M. A new form of long QT syndrome associated with syndactyly. J Am Coll Cardiol 1995;25 (1): 59–64.
- Yazawa M, Dolmetsch RE. Modeling Timothy syndrome with iPS cells. J Cardiovasc Transl Res 2013;6 (1): 1–9.
- Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, Sanguinetti MC, Keating MT. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci USA 2005;102 (23): 8089–8096.
- Hiippala A, Tallila J, Myllykangas S, Koskenvuo JW, Alastalo T-P. Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development. Am J Med Genet A 2015;167A (3): 629–634.
- Tang ZZ, Sharma S, Zheng S, Chawla G, Nikolic J, Black DL. Regulation of the mutually exclusive exons 8a and 8 in the CaV1.2 calcium channel transcript by polypyrimidine tract-binding protein. J Biol Chem 2011;286 (12): 10007–10016.
- Etheridge SP, Bowles NE, Arrington CB, Pilcher T, Rope A, Wilde AA, Alders M, Saarel EV, Tavernier R, Timothy KW, Tristani-Firouzi M. Somatic mosaicism contributes to phenotypic variation in Timothy syndrome. Am J Med Genet 2011;155A (10): 2578–2583.
- Yarotskyy V, Gao G, Peterson BZ, Elmslie KS. The Timothy syndrome mutation of cardiac CaV1.2 (L-type) channels: multiple altered gating mechanisms and pharmacological restoration of inactivation. J Physiol 2009;587 (Pt 3): 551–565.
- Dufendach KA, Giudicessi JR, Boczek NJ, Ackerman MJ. Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndrome. Pediatrics 2013;131 (6): e1991–e1995.
- Diep V, Seaver LH. Long QT syndrome with craniofacial, digital, and neurologic features: is it useful to distinguish between Timothy syndrome types 1 and 2? Am J Med Genet A 2015;167 (11): 2780–2785.
Baylor University Medical Center Proceedings
The peer-reviewed journal of Baylor Scott & White Health
Volume 29, 2016 - Issue 2