Article
Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population.
Orphanet journal of rare diseases - 31 Jan 2023
Sieliwonczyk Ewa, Alaerts Maaike, Simons Eline, Snyders Dirk, Nijak Aleksandra, Vandendriessche Bert, Schepers Dorien, Akdeniz Dogan, Van Craenenbroeck Emeline, Knaepen Katleen, Rabaut Laura, Heidbuchel Hein, Van Laer Lut, Saenen Johan, Labro Alain J, Loeys Bart
Abstract excerpt
BACKGROUND: The c.1124_1127delTTCA p.(Ile375Argfs*43) pathogenic variant is the most frequently identified molecular defect in the KCNQ1 gene in the cardiogenetics clinic of the Antwerp University Hospital. This variant was observed in nine families presenting with either Jervell-Lange-Nielsen syndrome or long QT syndrome (LQTS). Here, we report on the molecular, clinical and functional characterization of the...
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