Ontology highlight
ABSTRACT:
SUBMITTER: Riuro H
PROVIDER: S-EPMC4266740 | biostudies-literature | 2015 Jan
REPOSITORIES: biostudies-literature
Riuró Helena H Campuzano Oscar O Berne Paola P Arbelo Elena E Iglesias Anna A Pérez-Serra Alexandra A Coll-Vidal Mònica M Partemi Sara S Mademont-Soler Irene I Picó Ferran F Allegue Catarina C Oliva Antonio A Oliva Antonio A Gerstenfeld Edward E Sarquella-Brugada Georgia G Castro-Urda Víctor V Fernández-Lozano Ignacio I Mont Lluís L Brugada Josep J Scornik Fabiana S FS Brugada Ramon R
European journal of human genetics : EJHG 20140326 1
The heritable cardiovascular disorder long QT syndrome (LQTS), characterized by prolongation of the QT interval on electrocardiogram, carries a high risk of sudden cardiac death. We sought to add new data to the existing knowledge of genetic mutations contributing to LQTS to both expand our understanding of its genetic basis and assess the value of genetic testing in clinical decision-making. Direct sequencing of the five major contributing genes, KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2, was perfo ...[more]