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

Švecová,  Olga; Bébarová,  Markéta; Baiazitova, Larisa; Policarová,  Marcela; Hošek,  Jan; Andršová,  Irena; Valášková,  Iveta; Synková,  Iva; Gaillyová,  Renata; Vít,  Pavel; Novotný,  Tomáš

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