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Identification and functional assessment of a KCNH2 compound heterozygosity in a patient with presumed idiopathic ventricular fibrillation ascertains the diagnosis of long QT syndrome type 2.

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Title: Identification and functional assessment of a KCNH2 compound heterozygosity in a patient with presumed idiopathic ventricular fibrillation ascertains the diagnosis of long QT syndrome type 2.
Authors: Janková N; Department of Physiology, Faculty of Medicine, Masaryk University, Kamenice 5, Brno 625 00, Czech Republic., Král M; Department of Physiology, Faculty of Medicine, Masaryk University, Kamenice 5, Brno 625 00, Czech Republic., Švecová O; Department of Physiology, Faculty of Medicine, Masaryk University, Kamenice 5, Brno 625 00, Czech Republic., Zídková J; Department of Internal Medicine, Center of Molecular Biology and Genetics, Hematology and Oncology, University Hospital Brno and Faculty of Medicine, Masaryk University, Jihlavská 20, Brno 625 00, Czech Republic., Lietava S; Department of Internal Medicine and Cardiology, University Hospital Brno and Faculty of Medicine, Masaryk University, Jihlavská 20, Brno 625 00, Czech Republic., Sladeček S; Department of Experimental Biology, Faculty of Science, Masaryk University, Kamenice 5, Brno 625 00, Czech Republic., Pacherník J; Department of Experimental Biology, Faculty of Science, Masaryk University, Kamenice 5, Brno 625 00, Czech Republic., Pásek M; Department of Physiology, Faculty of Medicine, Masaryk University, Kamenice 5, Brno 625 00, Czech Republic.; Institute of Thermomechanics, Czech Academy of Sciences, Dolejškova 5, Prague 182 00, Czech Republic., Novotný T; Department of Internal Medicine and Cardiology, University Hospital Brno and Faculty of Medicine, Masaryk University, Jihlavská 20, Brno 625 00, Czech Republic., Bébarová M; Department of Physiology, Faculty of Medicine, Masaryk University, Kamenice 5, Brno 625 00, Czech Republic.; Department of Internal Medicine and Cardiology, University Hospital Brno and Faculty of Medicine, Masaryk University, Jihlavská 20, Brno 625 00, Czech Republic.
Source: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology [Europace] 2026 Feb 03; Vol. 28 (2).
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 100883649 Publication Model: Print Cited Medium: Internet ISSN: 1532-2092 (Electronic) Linking ISSN: 10995129 NLM ISO Abbreviation: Europace Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Identification and functional assessment of a KCNH2 compound heterozygosity in a patient with presumed idiopathic ventricular fibrillation ascertains the diagnosis of long QT syndrome type 2.
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  Data: <searchLink fieldCode="AU" term="%22Janková+N%22">Janková N</searchLink>; Department of Physiology, Faculty of Medicine, Masaryk University, Kamenice 5, Brno 625 00, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Král+M%22">Král M</searchLink>; Department of Physiology, Faculty of Medicine, Masaryk University, Kamenice 5, Brno 625 00, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Švecová+O%22">Švecová O</searchLink>; Department of Physiology, Faculty of Medicine, Masaryk University, Kamenice 5, Brno 625 00, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Zídková+J%22">Zídková J</searchLink>; Department of Internal Medicine, Center of Molecular Biology and Genetics, Hematology and Oncology, University Hospital Brno and Faculty of Medicine, Masaryk University, Jihlavská 20, Brno 625 00, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Lietava+S%22">Lietava S</searchLink>; Department of Internal Medicine and Cardiology, University Hospital Brno and Faculty of Medicine, Masaryk University, Jihlavská 20, Brno 625 00, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Sladeček+S%22">Sladeček S</searchLink>; Department of Experimental Biology, Faculty of Science, Masaryk University, Kamenice 5, Brno 625 00, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Pacherník+J%22">Pacherník J</searchLink>; Department of Experimental Biology, Faculty of Science, Masaryk University, Kamenice 5, Brno 625 00, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Pásek+M%22">Pásek M</searchLink>; Department of Physiology, Faculty of Medicine, Masaryk University, Kamenice 5, Brno 625 00, Czech Republic.; Institute of Thermomechanics, Czech Academy of Sciences, Dolejškova 5, Prague 182 00, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Novotný+T%22">Novotný T</searchLink>; Department of Internal Medicine and Cardiology, University Hospital Brno and Faculty of Medicine, Masaryk University, Jihlavská 20, Brno 625 00, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Bébarová+M%22">Bébarová M</searchLink>; Department of Physiology, Faculty of Medicine, Masaryk University, Kamenice 5, Brno 625 00, Czech Republic.; Department of Internal Medicine and Cardiology, University Hospital Brno and Faculty of Medicine, Masaryk University, Jihlavská 20, Brno 625 00, Czech Republic.
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  Data: <searchLink fieldCode="JN" term="%22100883649%22">Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology</searchLink> [Europace] 2026 Feb 03; Vol. 28 (2).
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              Text: 2026 Feb 03
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