Mutation R591C associated with long QT syndrome type 1: clinical, genetic, and functional analysis

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Authors

ŠVECOVÁ Olga BÉBAROVÁ Markéta BAIAZITOVA Larisa POLICAROVÁ Marcela HOŠEK Jan ANDRŠOVÁ Irena VALÁŠKOVÁ Iveta SYNKOVÁ Iva GAILLYOVÁ Renata VÍT Pavel NOVOTNÝ Tomáš

Year of publication 2019
Type Conference abstract
MU Faculty or unit

Faculty of Medicine

Citation
Description Inherited arrhythmogenic syndromes are characterized by atypical ECG findings and high occurrence of arrhythmias. These syndromes are associated with mutations in various genes, most often encoding structure of cardiac ion channels. In this study, we focused on complex analysis of a mutation in the KCNQ1 gene associated with long QT syndrome type 1 (LQT1). This gene encodes a-subunit (Kv7.1) of the slowly activating delayed rectifier potassium (IKs) channel.
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