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Proarrhythmic defects in Timothy syndrome require calmodulin kinase II.
Thiel WH, Chen B, Hund TJ, Koval OM, Purohit A, Song LS, Mohler PJ, Anderson ME. Thiel WH, et al. Circulation. 2008 Nov 25;118(22):2225-34. doi: 10.1161/CIRCULATIONAHA.108.788067. Epub 2008 Nov 10. Circulation. 2008. PMID: 19001023 Free PMC article.
Reduced heterogeneous expression of Cx43 results in decreased Nav1.5 expression and reduced sodium current that accounts for arrhythmia vulnerability in conditional Cx43 knockout mice.
Jansen JA, Noorman M, Musa H, Stein M, de Jong S, van der Nagel R, Hund TJ, Mohler PJ, Vos MA, van Veen TA, de Bakker JM, Delmar M, van Rijen HV. Jansen JA, et al. Heart Rhythm. 2012 Apr;9(4):600-7. doi: 10.1016/j.hrthm.2011.11.025. Epub 2011 Nov 16. Heart Rhythm. 2012. PMID: 22100711 Free PMC article.