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

a 2019

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

ŠVECOVÁ, Olga, Markéta BÉBAROVÁ, Larisa BAIAZITOVA, Marcela POLICAROVÁ, Jan HOŠEK et. al.

Basic information

Original name

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

Authors

ŠVECOVÁ, Olga (203 Czech Republic, belonging to the institution), Markéta BÉBAROVÁ (203 Czech Republic, guarantor, belonging to the institution), Larisa BAIAZITOVA (643 Russian Federation), Marcela POLICAROVÁ (203 Czech Republic, belonging to the institution), Jan HOŠEK (203 Czech Republic), Irena ANDRŠOVÁ (203 Czech Republic, belonging to the institution), Iveta VALÁŠKOVÁ (203 Czech Republic, belonging to the institution), Iva SYNKOVÁ (203 Czech Republic, belonging to the institution), Renata GAILLYOVÁ (203 Czech Republic, belonging to the institution), Pavel VÍT (203 Czech Republic, belonging to the institution) and Tomáš NOVOTNÝ (203 Czech Republic, belonging to the institution)

Edition

43rd EWGCCE Meeting, 2019

Other information

Language

English

Type of outcome

Konferenční abstrakt

Field of Study

30201 Cardiac and Cardiovascular systems

Country of publisher

United Kingdom of Great Britain and Northern Ireland

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 4.045

RIV identification code

RIV/00216224:14110/19:00108531

Organization unit

Faculty of Medicine

ISSN

Keywords in English

long QT; mutation; KCNQ1; patch clamp

Abstract

V originále

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.

Links

NV16-30571A, research and development project

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

Citovat

ŠVECOVÁ, Olga, Markéta BÉBAROVÁ, Larisa BAIAZITOVA, Marcela POLICAROVÁ, Jan HOŠEK, Irena ANDRŠOVÁ, Iveta VALÁŠKOVÁ, Iva SYNKOVÁ, Renata GAILLYOVÁ, Pavel VÍT and Tomáš NOVOTNÝ. Mutation R591C associated with long QT syndrome type 1: clinical, genetic, and functional analysis. In 43rd EWGCCE Meeting. 2019. ISSN 1532-2092.

@proceedings{1576723,
   author = {Švecová, Olga and Bébarová, Markéta and Baiazitova, Larisa and Policarová, Marcela and Hošek, Jan and Andršová, Irena and Valášková, Iveta and Synková, Iva and Gaillyová, Renata and Vít, Pavel and Novotný, Tomáš},
   booktitle = {43rd EWGCCE Meeting},
   keywords = {long QT; mutation; KCNQ1; patch clamp},
   language = {eng},
   title = {Mutation R591C associated with long QT syndrome type 1: clinical, genetic, and functional analysis},
   url = {https://esc365.escardio.org/Congress/EHRA-2019/Poster-Session-1-43rd-EWGCCE-Meeting/190024-mutation-r591c-associated-with-long-qt-syndrome-type-1-clinical-genetic-and-functional-analysis#abstract},
   year = {2019}
}

TY  - CONF
ID  - 1576723
AU  - Švecová, Olga - Bébarová, Markéta - Baiazitova, Larisa - Policarová, Marcela - Hošek, Jan - Andršová, Irena - Valášková, Iveta - Synková, Iva - Gaillyová, Renata - Vít, Pavel - Novotný, Tomáš
PY  - 2019
TI  - Mutation R591C associated with long QT syndrome type 1: clinical, genetic, and functional analysis
KW  - long QT
KW  - mutation
KW  - KCNQ1
KW  - patch clamp
UR  - https://esc365.escardio.org/Congress/EHRA-2019/Poster-Session-1-43rd-EWGCCE-Meeting/190024-mutation-r591c-associated-with-long-qt-syndrome-type-1-clinical-genetic-and-functional-analysis#abstract
L2  - https://esc365.escardio.org/Congress/EHRA-2019/Poster-Session-1-43rd-EWGCCE-Meeting/190024-mutation-r591c-associated-with-long-qt-syndrome-type-1-clinical-genetic-and-functional-analysis#abstract
N2  - 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.
ER  -

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