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收藏Ventricular conduction is a marker for arrhythmic risk in SCN5A-E1784K overlap sodium channel disease室性传导是SCN5A-E1784K重叠钠通道疾病中心律失常风险的标志物
Michael W T Tanck, PhD; Yanushi D Wijeyeratne, BMedSci, BMBS, PhD; Julien Barc, PhD; Alison Muir, MD; Takeshi Aiba, MD, PhD; Martijn J Bos, MD, PhD; Christian Veltmann, MD; Joseph Galvin, MD; Lia Crotti, MD, PhD; Taisuke Ishikawa, DVM, PhD; Seiko Ohno, MD, PhD; Stephen P Page, MD; Isabelle Denjoy, MD; David J Tester, PhD; Martina Muggenthaler, MD, PhD; Kazuhiro Takahashi, MD; Hariharan Raju, MBChB, PhD; Jean Baptiste Gourraud, MD, PhD; Richard Redon, PhD; Jean-Jacques Schott, PhD; Carla Haglund-Turnquist; Matteo Pedrazzini, BSc; Chiara Alberio, BSc; Federica Dagradi, MD; Michael Papadakis, MBBS, MD; Sanjay Sharma, MBChB, MD; Edward Petzer, MD; Dan M Roden, MD; Minoru Horie, MD, PhD; Peter J Schwartz, MD, PhD; Naomasa Makita, MD, PhD; Martin M Borggrefe, MD, PhD; Michael J Ackerman, MD, PhD; Wataru Shimizu, MD, PhD; Pascal P McKeown, MD; Vincent Probst, MD, PhD; Elijah R Behr, MBBS, MD; null 分享 收藏 Catecholaminergic polymorphic ventricular tachycardia mediated by ryanodine receptor 2: a validated risk stratification由ryanodine受体2介导的儿茶酚胺多形性室性心动过速：一项验证的风险分层Lieve, Krystien, V; van der Werf, Christian; Kallas, Dania; Denjoy, Isabelle; Bos, J. Martijn; Aiba, Takeshi; Behr, Elijah R.; van den Berg, Maarten P.; Bergeman, Auke T.; Blom, Nico A.; Borggrefe, Martin; Brugada, Ramon; Carrillo Mora, Lidia Maria; Chorin, Ehud; Crotti, Lia; Davis, Andrew; Drago, Fabrizio; Dusi, Veronica; Extramiana, Fabrice; Franciosi, Sonia; Giudicessi, John R.; Gonzalez Llopis, Francisco Angel; Haugaa, Kristina H.; van den Heuvel, Freek; Horie, Minoru; Ingles, Jodie; Kammeraad, Janneke; Kannankeril, Prince J.; Khan, Habib R.; Krahn, Andrew D.; MacIntyre, Ciorsti; Maltret, Alice; Marjamaa, Annukka; Ohno, Seiko; Peltenburg, Puck J.; Perez, Guillermo J.; Probst, Vincent; Roberts, Jason D.; Robyns, Tomas; Rootwelt-Norberg, Christine; Roses I. Noguer, Ferran; Roston, Thomas M.; Rydberg, Annika; Sacher, Frederic; Sarquella-Brugada, Georgia; Schwartz, Peter J.; Semsarian, Christopher; Shimizu, Wataru; Starling, Luke; Sumitomo, Naokata; Skinner, Jonathan R.; Tavacova, Terezia; Tfelt-Hansen, Jacob; Till, Janice A.; Yap, Sing-Chien; Wada, Yuko; Wanguemert, Fernando; Zorio, Esther; Ackerman, Michael J.; Leenhardt, Antoine; Sanatani, Shubhayan; Tanck, Michael W.; Wilde, Arthur A. 分享 收藏 分享 收藏 分享 收藏 Characterization of a Splice-Altering Variant in SCN5A Associated With Brugada Syndrome ― Insights Into Splice Error Correction ―Brugada综合征相关SCN5A剪接改变变异体的表征——剪接错误纠正的见解——Jinzai, Hideyuki; Kato, Koichi; Sawayama, Yuichi; Makiyama, Takeru; Kurosawa, Ryo; Kida, Ryotaro; Ohno, Seiko; Nakagawa, Yoshihisa; Ajiro, Masahiko; Hagiwara, Masatoshi; Horie, Minoru 分享 收藏 SCN5A variant type-dependent risk prediction in Brugada syndromeSCN5A变异类型依赖的风险预测在Brugada综合征中的应用Aizawa, Takanori; Makiyama, Takeru; Huang, Hai; Imamura, Tomohiko; Fukuyama, Megumi; Sonoda, Keiko; Kato, Koichi; Hisamatsu, Takashi; Nakamura, Yuko; Hoshino, Kenji; Ozawa, Junichi; Suzuki, Hiroshi; Yasuda, Kazushi; Aoki, Hisaaki; Kurita, Takashi; Yoshida, Yoko; Suzuki, Tsugutoshi; Nakamura, Yoshihide; Ogawa, Yoshiharu; Yamagami, Shintaro; Morita, Hiroshi; Yuasa, Shinsuke; Fukuda, Masakazu; Ono, Makoto; Kondo, Hidekazu; Takahashi, Naohiko; Ohno, Seiko; Nakagawa, Yoshihisa; Ono, Koh; Horie, Minoru 分享 收藏 Clinical Features, Long-Term Prognosis, and Clinical Management of Genotype-Negative Long QT Syndrome PatientsShimamoto, Keiko; Dagradi, Federica; Ohno, Seiko; Spazzolini, Carla; Crotti, Lia; Giovenzana, Fulvio L. F.; Musu, Giulia; Pedrazzini, Matteo; Kusano, Kengo; Takegami, Misa; Nishimura, Kunihiro; Horie, Minoru; Aiba, Takeshi; Schwartz, Peter J. 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 An international multicenter cohort study on implantable cardioverter-defibrillators for the treatment of symptomatic children with catecholaminergic polymorphic ventricular tachycardiaLamba, Avani; Roston, Thomas M.; Peltenburg, Puck J.; Kallas, Dania; Franciosi, Sonia; Lieve, Krystien V. V.; Kannankeril, Prince J.; Horie, Minoru; Ohno, Seiko; Brugada, Ramon; Aiba, Takeshi; Fischbach, Peter; Knight, Linda; Till, Jan; Kwok, Sit-Yee; Probst, Vincent; Backhoff, David; Lapage, Martin J.; Batra, Anjan S.; Drago, Fabrizio; Haugaa, Kristina; Krahn, Andrew D.; Robyns, Tomas; Swan, Heikki; Tavacova, Terezia; van der Werf, Christian; Atallah, Joseph; Borggrefe, Martin; Rudic, Boris; Sarquella-Brugada, Georgia; Chorin, Ehud; Hill, Allison; Kammeraad, Janneke; Kamp, Anna; Law, Ian; Perry, James; Roberts, Jason D.; Tisma-Dupanovic, Svjetlana; Semsarian, Christopher; Skinner, Jonathan R.; Tfelt-Hansen, Jacob; Denjoy, Isabelle; Leenhardt, Antoine; Schwartz, Peter J.; Ackerman, Michael J.; Blom, Nico A.; Wilde, Arthur A. M.; Sanatani, Shubhayan 分享 收藏 Novel KCNQ1 Q234K variant, identified in patients with long QT syndrome and epileptiform activity, induces both gain- and loss-of-function of slowly activating delayed rectifier potassium currentsNakajima, Tadashi; Tamura, Shuntaro; Kawabata-Iwakawa, Reika; Itoh, Hideki; Hasegawa, Hiroshi; Kobari, Takashi; Harasawa, Shun; Sekine, Akiko; Nishiyama, Masahiko; Kurabayashi, Masahiko; Imoto, Keiji; Kaneko, Yoshiaki; Nakatani, Yosuke; Horie, Minoru; Ishii, Hideki 分享 收藏 Clinical characterization of type 1 long QT syndrome caused by C-terminus Kv7.1 variantsKashiwa, Asami; Itoh, Hideki; Makiyama, Takeru; Wada, Yuko; Ozawa, Junichi; Kato, Koichi; Fukuyama, Megumi; Nakajima, Tadashi; Ohno, Seiko; Horie, Minoru 分享 收藏 分享 收藏 Brugada syndrome in Japan and Europe: a genome-wide association study reveals shared genetic architecture and new risk lociIshikawa, Taisuke; Masuda, Tatsuo; Hachiya, Tsuyoshi; Dina, Christian; Simonet, Floriane; Nagata, Yuki; Tanck, Michael W. T.; Sonehara, Kyuto; Glinge, Charlotte; Tadros, Rafik; Khongphatthanayothin, Apichai; Lu, Tzu-Pin; Higuchi, Chihiro; Nakajima, Tadashi; Hayashi, Kenshi; Aizawa, Yoshiyasu; Nakano, Yukiko; Nogami, Akihiko; Morita, Hiroshi; Ohno, Seiko; Aiba, Takeshi; Juarez, Christian Krijger; Mauleekoonphairoj, John; Poovorawan, Yong; Gourraud, Jean-Baptiste; Shimizu, Wataru; Probst, Vincent; Horie, Minoru; Wilde, Arthur A. M.; Redon, Richard; Juang, Jyh-Ming Jimmy; Nademanee, Koonlawee; Bezzina, Connie R.; Barc, Julien; Tanaka, Toshihiro; Okada, Yukinori; Schott, Jean-Jacques; Makita, Naomasa 分享 收藏 分享 收藏 TAD boundary deletion causes PITX2-related cardiac electrical and structural defectsBaudic, Manon; Murata, Hiroshige; Bosada, Fernanda M.; Melo, Uira Souto; Aizawa, Takanori; Lindenbaum, Pierre; van der Maarel, Lieve E.; Guedon, Amaury; Baron, Estelle; Fremy, Enora; Foucal, Adrien; Ishikawa, Taisuke; Ushinohama, Hiroya; Jurgens, Sean J.; Choi, Seung Hoan; Kyndt, Florence; Le Scouarnec, Solena; Wakker, Vincent; Thollet, Aurelie; Rajalu, Annabelle; Takaki, Tadashi; Ohno, Seiko; Shimizu, Wataru; Horie, Minoru; Kimura, Takeshi; Ellinor, Patrick T.; Petit, Florence; Dulac, Yves; Bru, Paul; Boland, Anne; Deleuze, Jean-Francois; Redon, Richard; Le Marec, Herve; Le Tourneau, Thierry; Gourraud, Jean-Baptiste; Yoshida, Yoshinori; Makita, Naomasa; Vieyres, Claude; Makiyama, Takeru; Mundlos, Stephan; Christoffels, Vincent M.; Probst, Vincent; Schott, Jean-Jacques; Barc, Julien 分享 收藏 Application and validation of phenotype-enhanced variant classification in East Asian patients with catecholaminergic polymorphic ventricular tachycardiaHsu, Grace Chia-Yen; Wu, Mei-Hwan; Chiu, Shuenn-Nan; Lin, Ming-Tai; Lai, Ling-Ping; Liu, Sheng-Fu; Yeh, Shih-Fan Sherri; Lin, Ting-Tse; Chiang, Fu-Tien; Chuang, Jing-Yuan; Juang, Jyh-Ming Jimmy; Horie, Minoru 分享 收藏 
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