Levy RJ, Timothy KW, Underwood JFG, Hall J, Bernstein JA, Pasca SP. A Cross-Sectional Study of the Neuropsychiatric Phenotype of CACNA1C-Related Disorder. Pediatr Neurol. 2023;138:101–6.

Article  PubMed  Google Scholar 

Borbas J, Vamos M, Hategan L, Hanak L, Farkas N, Szakacs Z, Csupor D, Tel B, Kupo P, Csanyi B, Nagy V, Komocsi A, Habon T, Hegyi P, Sepp R. Geno- and phenotypic characteristics and clinical outcomes of CACNA1C gene mutation associated Timothy syndrome, “cardiac only” Timothy syndrome and isolated long QT syndrome 8: A systematic review. Front Cardiovasc Med. 2022;9:1021009.

Article  CAS  PubMed  PubMed Central  Google Scholar 

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;119:19–31.

Article  CAS  PubMed  Google Scholar 

Bauer R, Timothy KW, Golden A. Update on the Molecular Genetics of Timothy Syndrome. Front Pediatr. 2021;9: 668546.

Article  PubMed  PubMed Central  Google Scholar 

Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, Sanguinetti MC, Keating MT (2005) Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci U S A 102: 8089–8096; discussion 8086–8088

Einhorn NR, Patel RS, Bennett JL, McDonald TV. Hypertrophic cardiomyopathy and long QT syndrome in cardiac-only Timothy syndrome. HeartRhythm Case Rep. 2023;9:560–4.

Article  PubMed  PubMed Central  Google Scholar 

Boczek NJ, Ye D, Jin F, Tester DJ, Huseby A, Bos JM, Johnson AJ, Kanter R, Ackerman MJ. Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death. Circ Arrhythm Electrophysiol. 2015;8:1122–32.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ye D, Tester DJ, Zhou W, Papagiannis J, Ackerman MJ. A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel. Heart Rhythm. 2019;16:270–8.

Article  PubMed  Google Scholar 

Hiippala A, Tallila J, Myllykangas S, Koskenvuo JW, Alastalo TP. Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development. Am J Med Genet A. 2015;167A:629–34.

Article  PubMed  Google Scholar 

Dufendach KA, Timothy K, Ackerman MJ, Blevins B, Pflaumer A, Etheridge S, Perry J, Blom NA, Temple J, Chowdhury D, Skinner JR, Johnsrude C, Bratincsak A, Bos JM, Shah M. Clinical Outcomes and Modes of Death in Timothy Syndrome: A Multicenter International Study of a Rare Disorder. JACC Clin Electrophysiol. 2018;4:459–66.

Article  PubMed  Google Scholar 

Goldenberg I, Moss AJ, Peterson DR, McNitt S, Zareba W, Andrews ML, Robinson JL, Locati EH, Ackerman MJ, Benhorin J, Kaufman ES, Napolitano C, Priori SG, Qi M, Schwartz PJ, Towbin JA, Vincent GM, Zhang L. Risk factors for aborted cardiac arrest and sudden cardiac death in children with the congenital long-QT syndrome. Circulation. 2008;117:2184–91.

Article  PubMed  PubMed Central  Google Scholar 

Horner JM, Horner MM, Ackerman MJ. The diagnostic utility of recovery phase QTc during treadmill exercise stress testing in the evaluation of long QT syndrome. Heart Rhythm. 2011;8:1698–704.

Article  PubMed  Google Scholar 

Sugrue A, van Zyl M, Enger N, Mancl K, Eidem BW, Oh JK, Bos JM, Asirvatham SJ, Ackerman MJ. Echocardiography-Guided Risk Stratification for Long QT Syndrome. J Am Coll Cardiol. 2020;76:2834–43.

Article  PubMed  Google Scholar 

Fukuyama M, Ohno S, Ozawa J, Kato K, Makiyama T, Nakagawa Y, Horie M. High Prevalence of Late-Appearing T-Wave in Patients With Long QT Syndrome Type 8. Circ J. 2020;84:559–68.

Article  PubMed  Google Scholar 

MacIntyre CJ, Rohatgi RK, Sugrue AM, Bos JM, Ackerman MJ. Intentional nontherapy in long QT syndrome. Heart Rhythm. 2020;17:1147–50.

Article  PubMed  Google Scholar 

Niaz T, Bos JM, Sorensen KB, Moir C, Ackerman MJ. Left Cardiac Sympathetic Denervation Monotherapy in Patients With Congenital Long QT Syndrome. Circ Arrhythm Electrophysiol. 2020;13: e008830.

Article  CAS  PubMed  Google Scholar 

Tobert KE, Bos JM, Garmany R, Ackerman MJ. Return-to-Play for Athletes With Long QT Syndrome or Genetic Heart Diseases Predisposing to Sudden Death. J Am Coll Cardiol. 2021;78:594–604.

Article  PubMed  Google Scholar