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Cardiac ryanodine receptor calcium release deficiency syndrome.
Sun B, Yao J, Ni M, Wei J, Zhong X, Guo W, Zhang L, Wang R, Belke D, Chen YX, Lieve KVV, Broendberg AK, Roston TM, Blankoff I, Kammeraad JA, von Alvensleben JC, Lazarte J, Vallmitjana A, Bohne LJ, Rose RA, Benitez R, Hove-Madsen L, Napolitano C, Hegele RA, Fill M, Sanatani S, Wilde AAM, Roberts JD, Priori SG, Jensen HK, Chen SRW. Sun B, et al. Among authors: broendberg ak. Sci Transl Med. 2021 Feb 3;13(579):eaba7287. doi: 10.1126/scitranslmed.aba7287. Sci Transl Med. 2021. PMID: 33536282 Free article.
The G213D variant in Nav1.5 alters sodium current and causes an arrhythmogenic phenotype resulting in a multifocal ectopic Purkinje-related premature contraction phenotype in human-induced pluripotent stem cell-derived cardiomyocytes.
Calloe K, Geryk M, Freude K, Treat JA, Vold VA, Frederiksen HRS, Broendberg AK, Frederiksen TC, Jensen HK, Cordeiro JM. Calloe K, et al. Among authors: broendberg ak. Europace. 2022 Dec 9;24(12):2015-2027. doi: 10.1093/europace/euac090. Europace. 2022. PMID: 35726875