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A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1.
Kokunai Y, Nakata T, Furuta M, Sakata S, Kimura H, Aiba T, Yoshinaga M, Osaki Y, Nakamori M, Itoh H, Sato T, Kubota T, Kadota K, Shindo K, Mochizuki H, Shimizu W, Horie M, Okamura Y, Ohno K, Takahashi MP. Kokunai Y, et al. Among authors: itoh h. Neurology. 2014 Mar 25;82(12):1058-64. doi: 10.1212/WNL.0000000000000239. Epub 2014 Feb 26. Neurology. 2014. PMID: 24574546
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.
Makita N, Behr E, Shimizu W, Horie M, Sunami A, Crotti L, Schulze-Bahr E, Fukuhara S, Mochizuki N, Makiyama T, Itoh H, Christiansen M, McKeown P, Miyamoto K, Kamakura S, Tsutsui H, Schwartz PJ, George AL Jr, Roden DM. Makita N, et al. Among authors: itoh h. J Clin Invest. 2008 Jun;118(6):2219-29. doi: 10.1172/JCI34057. J Clin Invest. 2008. PMID: 18451998 Free PMC article.
Hydroxyzine, a first generation H(1)-receptor antagonist, inhibits human ether-a-go-go-related gene (HERG) current and causes syncope in a patient with the HERG mutation.
Sakaguchi T, Itoh H, Ding WG, Tsuji K, Nagaoka I, Oka Y, Ashihara T, Ito M, Yumoto Y, Zenda N, Higashi Y, Takeyama Y, Matsuura H, Horie M. Sakaguchi T, et al. Among authors: itoh h. J Pharmacol Sci. 2008 Dec;108(4):462-71. doi: 10.1254/jphs.08178fp. Epub 2008 Dec 5. J Pharmacol Sci. 2008. PMID: 19057127 Free article.
3,925 results