| SYNKOVÁ, Iva, Iveta VALÁŠKOVÁ, Renata GAILLYOVÁ, Tomáš NOVOTNÝ, Markéta BÉBAROVÁ, Irena ANDRŠOVÁ, A. FLORIANOVA, Pavel VÍT and R. NAVRATIL. Molecular analysis confirmed common ancestor of 10 Czech families with long QT syndrome carrying C926T-KCNQ1 variant. In 52nd Conference of the European-Society-of-Human-Genetics (ESHG). 2019. ISSN 1018-4813. |
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@proceedings{1604877,
author = {Synková, Iva and Valášková, Iveta and Gaillyová, Renata and Novotný, Tomáš and Bébarová, Markéta and Andršová, Irena and Florianova, A. and Vít, Pavel and Navratil, R.},
booktitle = {52nd Conference of the European-Society-of-Human-Genetics (ESHG)},
keywords = {QT syndrome; C926T-KCNQ1; Molecular analysis},
language = {eng},
title = {Molecular analysis confirmed common ancestor of 10 Czech families with long QT syndrome carrying C926T-KCNQ1 variant},
year = {2019}
}
TY - CONF
ID - 1604877
AU - Synková, Iva - Valášková, Iveta - Gaillyová, Renata - Novotný, Tomáš - Bébarová, Markéta - Andršová, Irena - Florianova, A. - Vít, Pavel - Navratil, R.
PY - 2019
TI - Molecular analysis confirmed common ancestor of 10 Czech families with long QT syndrome carrying C926T-KCNQ1 variant
KW - QT syndrome
KW - C926T-KCNQ1
KW - Molecular analysis
N2 - Long QT syndrome (LQTS) is a hereditary arrhythmic syndrome characterized by abnormal prolongation of QT interval, increased risk of ventricular arrhythmias, and sudden death. It is the most often diagnosed hereditary arrhythmic disorder with prevalence 1:2000. The KCNQ1 gene is one of the 3 major genes (KCNQ1, KCNH2 and SCN5A) which account for 75 % of the genetically identified LQTS cases. The same KCNQ1 mutation c.926C>T (p.T309I) was identified in 10 putatively unrelated families.
ER -
SYNKOVÁ, Iva, Iveta VALÁŠKOVÁ, Renata GAILLYOVÁ, Tomáš NOVOTNÝ, Markéta BÉBAROVÁ, Irena ANDRŠOVÁ, A. FLORIANOVA, Pavel VÍT and R. NAVRATIL. Molecular analysis confirmed common ancestor of 10 Czech families with long QT syndrome carrying C926T-KCNQ1 variant. In \textit{52nd Conference of the European-Society-of-Human-Genetics (ESHG)}. 2019. ISSN~1018-4813.
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