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Don E Burgess, Daniel C Bartos, Allison R Reloj, Kenneth S Campbell, Jonathan N Johnson, David J Tester, Michael J Ackerman, Véronique Fressart, Isabelle Denjoy, Pascale Guicheney, Arthur J Moss, Seiko Ohno, Minoru Horie, Brian P Delisle
Type 1 long QT syndrome (LQT1) is caused by loss-of-function mutations in the KCNQ1 gene, which encodes the K(+) channel (Kv7.1) that underlies the slowly activating delayed rectifier K(+) current in the heart. Intragenic risk stratification suggests LQT1 mutations that disrupt conserved amino acid residues in the pore are an independent risk factor for LQT1-related cardiac events. The purpose of this study is to determine possible molecular mechanisms that underlie the loss of function for these high-risk mutations...
November 13, 2012: Biochemistry
Parwez Aidery, Jana Kisselbach, Patrick A Schweizer, Rüdiger Becker, Hugo A Katus, Dierk Thomas
Long QT syndrome (LQTS) 1 is the most common type of inherited LQTS and is linked to mutations in the KCNQ1 gene. We identified a KCNQ1 missense mutation, KCNQ1 G325R, in an asymptomatic patient presenting with significant QT prolongation (QTc, 448-600ms). Prior clinical reports revealed phenotypic variability ranging from the absence of symptoms to syncope among KCNQ1 G325R mutation carriers. The present study was designed to determine the G325R ion channel phenotype and its association with the clinical LQTS presentation...
December 10, 2012: Gene
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