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

Sven Zumhagen; Marieke W. Veldkamp; Birgit Stallmeyer; Antonius Baartscheer; Lars Eckardt; Matthias Paul; Carol Ann Remme; Zahurul A. Bhuiyan; Connie R. Bezzina; Eric Schulze-Bahr

doi:10.1371/journal.pone.0067963

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Research Article

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

Sven Zumhagen ,

Contributed equally to this work with: Sven Zumhagen, Marieke W. Veldkamp

* E-mail: Sven.Zumhagen@ukmuenster.de

Affiliation Institute for Genetics of Heart Diseases (IfGH), Department of Cardiovascular Medicine, University Hospital Münster, Münster, Germany
⨯
Marieke W. Veldkamp ,

Contributed equally to this work with: Sven Zumhagen, Marieke W. Veldkamp

Affiliation Clinical and Experimental Cardiology, Heart Center, Academic Medical Center, Amsterdam, The Netherlands
⨯
Birgit Stallmeyer,

Affiliation Institute for Genetics of Heart Diseases (IfGH), Department of Cardiovascular Medicine, University Hospital Münster, Münster, Germany
⨯
Antonius Baartscheer,

Affiliation Clinical and Experimental Cardiology, Heart Center, Academic Medical Center, Amsterdam, The Netherlands
⨯
Lars Eckardt,

Affiliation Division of Electrophysiology, Department of Cardiovascular Medicine, University Hospital Münster, Münster, Germany
⨯
Matthias Paul,

Affiliation Division of Cardiology, Department of Cardiovascular Medicine, University Hospital Münster, Münster, Germany
⨯
Carol Ann Remme,

Affiliation Clinical and Experimental Cardiology, Heart Center, Academic Medical Center, Amsterdam, The Netherlands
⨯
Zahurul A. Bhuiyan,

Affiliation Laboratoire de Génétique Moléculaire, Service de Génétique Médicale, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland
⨯
Connie R. Bezzina,

Affiliation Clinical and Experimental Cardiology, Heart Center, Academic Medical Center, Amsterdam, The Netherlands
⨯
Eric Schulze-Bahr

Affiliations Institute for Genetics of Heart Diseases (IfGH), Department of Cardiovascular Medicine, University Hospital Münster, Münster, Germany, Interdisciplinary Centre for Clinical Research (IZKF), University Hospital Münster, Münster, Germany
⨯

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

Sven Zumhagen,
Marieke W. Veldkamp,
Birgit Stallmeyer,
Antonius Baartscheer,
Lars Eckardt,
Matthias Paul,
Carol Ann Remme,
Zahurul A. Bhuiyan,
Connie R. Bezzina,
Eric Schulze-Bahr

Published: June 28, 2013
https://doi.org/10.1371/journal.pone.0067963

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