Functional characteristics of mutations identified in patients with long QT syndrome type 1, T309I and R562S

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Authors

BÉBAROVÁ Markéta ŠVECOVÁ Olga BAIAZITOVA Larisa POLICAROVÁ Marcela HOŠEK Jan NOVOTNÝ Tomáš

Year of publication 2019
Type Conference abstract
MU Faculty or unit

Faculty of Medicine

Citation
Description Long QT syndrome type 1 (LQT1), the most often diagnosed inherited arrhythmogenic syndrome, is associated with mostly heterozygous loss-of-function mutations in the KCNQ1 gene. This gene encodes structure of the alpha-subunit (Kv7.1 protein) of slow delayed rectifier potassium current (IKs), an important repolarizing current, especially during increased sympathetic stimulation.
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