Article
Clinical characterization of the first Belgian SCN5A founder mutation cohort.
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 - 7 Jun 2021
Sieliwonczyk Ewa, Alaerts Maaike, Robyns Tomas, Schepers Dorien, Claes Charlotte, Corveleyn Anniek, Willems Rik, Van Craenenbroeck Emeline M, Simons Eline, Nijak Aleksandra, Vandendriessche Bert, Mortier Geert, Vrints Christiaan, Koopman Pieter, Heidbuchel Hein, Van Laer Lut, Saenen Johan, Loeys Bart
Abstract excerpt
AIMS: We identified the first Belgian SCN5A founder mutation, c.4813 + 3_4813 + 6dupGGGT. To describe the clinical spectrum and disease severity associated with this mutation, clinical data of 101 SCN5A founder mutation carriers and 46 non-mutation carrying family members from 25 Belgian families were collected. METHODS AND RESULTS: The SCN5A founder mutation was confirmed by haplotype analysis. The clinical...
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