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.
Related projects:	Klinický význam a elektrofyziologické zhodnocení mutace c.926C>T genu KCNQ1 (p.T309I) jako možné „founder mutation“ syndromu dlouhého intervalu QT