Condition: Prolonged QT interval


rs120074185 in KCNQ1 gene and Prolonged QT interval PMID 15746441 2005 In the present study, we show that PIP2 affinity is reduced in three KCNQ1 mutant channels (R243H, R539W, and R555C) associated with the long QT syndrome.

PMID 22456477 2012 Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome.

PMID 12877697 2003 Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome.

PMID 9386136 1997 In contrast, a missense mutation, Arg555Cys, identified in the C-terminal domain in 3 families, was associated with a significantly less pronounced QT prolongation (459+/-33 ms, n=41, versus 480+/-32 ms, n=70, P=.0012), and significantly lower percentages of symptomatic carriers (7 of 44, or 16%, P<.001) and sudden deaths (2 of 44, or 5%, P<.01).

PMID 26669661 2016 Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.

PMID 19934648 2010 PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions.

PMID 14760488 2004 Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.

PMID 19716085 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PMID 18174212 2008 Kv7.1 (KCNQ1) properties and channelopathies.

PMID 29372044 2018 Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome.

PMID 29033053 2018 Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families.

PMID 28595573 2017 A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.

PMID 17227916 2007 The role of S4 charges in voltage-dependent and voltage-independent KCNQ1 potassium channel complexes.

PMID 24667783 2015 Genetic analysis, in silico prediction, and family segregation in long QT syndrome.

PMID 27761162 2016 Molecular pathogenesis of long QT syndrome type 1.