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A heterozygous deletion mutation in the cardiac sodium channel gene SCN5A with loss- and gain-of-function characteristics manifests as isolated conduction disease, without signs of Brugada or long QT syndrome.
Zumhagen S, Veldkamp MW, Stallmeyer B, Baartscheer A, Eckardt L, Paul M, Remme CA, Bhuiyan ZA, Bezzina CR, Schulze-Bahr E. Zumhagen S, et al. PLoS One. 2013 Jun 28;8(6):e67963. doi: 10.1371/journal.pone.0067963. Print 2013. PLoS One. 2013. PMID: 23840796 Free PMC article.
Estradiol regulates human QT-interval: acceleration of cardiac repolarization by enhanced KCNH2 membrane trafficking.
Anneken L, Baumann S, Vigneault P, Biliczki P, Friedrich C, Xiao L, Girmatsion Z, Takac I, Brandes RP, Kissler S, Wiegratz I, Zumhagen S, Stallmeyer B, Hohnloser SH, Klingenheben T, Schulze-Bahr E, Nattel S, Ehrlich JR. Anneken L, et al. Among authors: zumhagen s. Eur Heart J. 2016 Feb 14;37(7):640-50. doi: 10.1093/eurheartj/ehv371. Epub 2015 Aug 12. Eur Heart J. 2016. PMID: 26271031 Free PMC article.
Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.
Itoh H, Berthet M, Fressart V, Denjoy I, Maugenre S, Klug D, Mizusawa Y, Makiyama T, Hofman N, Stallmeyer B, Zumhagen S, Shimizu W, Wilde AA, Schulze-Bahr E, Horie M, Tezenas du Montcel S, Guicheney P. Itoh H, et al. Among authors: zumhagen s. Eur J Hum Genet. 2016 Aug;24(8):1160-6. doi: 10.1038/ejhg.2015.257. Epub 2015 Dec 16. Eur J Hum Genet. 2016. PMID: 26669661 Free PMC article.
Early repolarization pattern: a marker of increased risk in patients with catecholaminergic polymorphic ventricular tachycardia.
Tülümen E, Schulze-Bahr E, Zumhagen S, Stallmeyer B, Seebohm G, Beckmann BM, Kääb S, Rudic B, Liebe V, Wolpert C, Herrera-Siklody C, Veltmann C, Schimpf R, Borggrefe M. Tülümen E, et al. Among authors: zumhagen s. Europace. 2016 Oct;18(10):1587-1592. doi: 10.1093/europace/euv357. Epub 2015 Dec 23. Europace. 2016. PMID: 26705564
40 results