Non-missense variants of KCNH2 show better outcomes in type 2 long QT syndrome

Abstract Aims More than one-third of type 2 long QT syndrome (LQT2) patients carry KCNH2 non-missense variants that can result in haploinsufficiency (HI), leading to mechanistic loss-of-function. However, their clinical phenotypes have not been fully investigated. The remaining two-thirds of patient...

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Veröffentlicht in:	Europace (London, England) England), 2023-04, Vol.25 (4), p.1491-1499
Hauptverfasser:	Aizawa, Takanori, Wada, Yuko, Hasegawa, Kanae, Huang, Hai, Imamura, Tomohiko, Gao, Jingshan, Kashiwa, Asami, Kohjitani, Hirohiko, Fukuyama, Megumi, Kato, Koichi, Kato, Eri Toda, Hisamatsu, Takashi, Ohno, Seiko, Makiyama, Takeru, Kimura, Takeshi, Horie, Minoru
Format:	Artikel
Sprache:	eng
Schlagworte:	Arrhythmias, Cardiac Clinical Research ERG1 Potassium Channel - genetics Genetic Testing Humans Long QT Syndrome - diagnosis Long QT Syndrome - genetics Mutation, Missense
Online-Zugang:	Volltext
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