PMID 24561134 2014 Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome.
PMID 19008479 2008 Long QT syndrome-associated mutations in KCNQ1 and KCNE1 subunits disrupt normal endosomal recycling of IKs channels.
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 12566567 2003 Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel.
PMID 16818210 2006 Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing.
PMID 19340287 2009 Functional interactions between KCNE1 C-terminus and the KCNQ1 channel.
PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
PMID 24400172 2013 Modification by KCNE1 variants of the hERG potassium channel response to premature stimulation and to pharmacological inhibition.
PMID 11320260 2001 Distinct gene-specific mechanisms of arrhythmia revealed by cardiac gene transfer of two long QT disease genes, HERG and KCNE1.
PMID 26187847 2015 Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
PMID 19521339 2009 Intracellular domains interactions and gated motions of I(KS) potassium channel subunits.
PMID 24606995 2014 Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.
PMID 9354783 1997 KCNE1 mutations cause jervell and Lange-Nielsen syndrome.
PMID 9445165 1998 Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome.
rs74315445 in
KCNE1 gene and
JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)
PMID 21676880 2011 Post-translational N-glycosylation of type I transmembrane KCNE1 peptides: implications for membrane protein biogenesis and disease.
PMID 9354783 1997 KCNE1 mutations cause jervell and Lange-Nielsen syndrome.
PMID 9328483 1997 IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome.
PMID 10400998 1999 Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome.
rs74315445 in
KCNE1 gene and
Jervell-Lange Nielsen Syndrome
PMID 9445165 1998 Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome.
PMID 11320260 2001 Distinct gene-specific mechanisms of arrhythmia revealed by cardiac gene transfer of two long QT disease genes, HERG and KCNE1.
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 26187847 2015 Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
PMID 19340287 2009 Functional interactions between KCNE1 C-terminus and the KCNQ1 channel.
PMID 24606995 2014 Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.
PMID 9354802 1997 Mutations in the hminK gene cause long QT syndrome and suppress IKs function.
PMID 24561134 2014 Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome.
PMID 9354783 1997 KCNE1 mutations cause jervell and Lange-Nielsen syndrome.
PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
PMID 12566567 2003 Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel.
PMID 19521339 2009 Intracellular domains interactions and gated motions of I(KS) potassium channel subunits.
PMID 16818210 2006 Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing.
PMID 19008479 2008 Long QT syndrome-associated mutations in KCNQ1 and KCNE1 subunits disrupt normal endosomal recycling of IKs channels.
PMID 24400172 2013 Modification by KCNE1 variants of the hERG potassium channel response to premature stimulation and to pharmacological inhibition.
rs74315445 in
KCNE1 gene and
LONG QT SYNDROME 5
PMID 9354783 1997 KCNE1 mutations cause jervell and Lange-Nielsen syndrome.
PMID 25037568 2014 Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIP₂.
PMID 9354802 1997 Mutations in the hminK gene cause long QT syndrome and suppress IKs function.
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 12566567 2003 Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel.
PMID 10400998 1999 Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome.
PMID 9445165 1998 Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome.
PMID 11874988 2002 Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism.
PMID 16414944 2005 Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
PMID 11692163 2001 A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype.
PMID 10973849 2000 Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
rs74315445 in
KCNE1 gene and
Long QT Syndrome
PMID 9354802 1997 Mutations in the hminK gene cause long QT syndrome and suppress IKs function.
PMID 24606995 2014 Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.
PMID 24561134 2014 Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome.
PMID 9445165 1998 Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome.
PMID 24400172 2013 Modification by KCNE1 variants of the hERG potassium channel response to premature stimulation and to pharmacological inhibition.
PMID 9354783 1997 KCNE1 mutations cause jervell and Lange-Nielsen syndrome.
PMID 10428953 1999 Stilbenes and fenamates rescue the loss of I(KS) channel function induced by an LQT5 mutation and other IsK mutants.
PMID 10400998 1999 Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome.
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 11874988 2002 Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism.
PMID 12566567 2003 Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel.