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@proceedings{1576722,
author = {Bébarová, Markéta and Švecová, Olga and Baiazitova, Larisa and Policarová, Marcela and Hošek, Jan and Novotný, Tomáš},
booktitle = {43rd EWGCCE Meeting},
keywords = {long QT; mutation; KCNQ1; function; patch clamp},
language = {eng},
title = {Functional characteristics of mutations identified in patients with long QT syndrome type 1, T309I and R562S},
url = {https://esc365.escardio.org/Congress/EHRA-2019/Poster-session-2-43rd-EWGCCE-Meeting/190041-functional-characteristics-of-mutations-identified-in-patients-with-long-qt-syndrome-type-1-t309i-and-r562s#abstract},
year = {2019}
}
TY - CONF
ID - 1576722
AU - Bébarová, Markéta - Švecová, Olga - Baiazitova, Larisa - Policarová, Marcela - Hošek, Jan - Novotný, Tomáš
PY - 2019
TI - Functional characteristics of mutations identified in patients with long QT syndrome type 1, T309I and R562S
KW - long QT
KW - mutation
KW - KCNQ1
KW - function
KW - patch clamp
UR - https://esc365.escardio.org/Congress/EHRA-2019/Poster-session-2-43rd-EWGCCE-Meeting/190041-functional-characteristics-of-mutations-identified-in-patients-with-long-qt-syndrome-type-1-t309i-and-r562s#abstract
L2 - https://esc365.escardio.org/Congress/EHRA-2019/Poster-session-2-43rd-EWGCCE-Meeting/190041-functional-characteristics-of-mutations-identified-in-patients-with-long-qt-syndrome-type-1-t309i-and-r562s#abstract
N2 - 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.
ER -
BÉBAROVÁ, Markéta, Olga ŠVECOVÁ, Larisa BAIAZITOVA, Marcela POLICAROVÁ, Jan HOŠEK and Tomáš NOVOTNÝ. Functional characteristics of mutations identified in patients with long QT syndrome type 1, T309I and R562S. In \textit{43rd EWGCCE Meeting}. 2019. ISSN~1532-2092.
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