Condition: Jervell-Lange Nielsen 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.

rs17215500 in KCNQ1 gene and Jervell-Lange Nielsen Syndrome PMID 24552659 2014 The R518X/KCNQ1 mutation is a common cause of autosomal recessive (Jervell and Lange Nielsen Syndrome- JLNS) and autosomal dominant long QT syndrome (LQTS) worldwide.

PMID 10704188 1999 Jervell and Lange-Nielsen syndrome: a Norwegian perspective.

PMID 22539601 2012 Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden.

PMID 23098067 2012 Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

PMID 14510661 2003 Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome).

PMID 10482963 1999 Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.

PMID 22309168 2012 Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel.

PMID 24912595 2014 Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1.

PMID 26546361 2015 Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis.

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 15466642 2004 Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.

PMID 11530100 2001 A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome.

PMID 10560595 1999 Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome.

PMID 23631430 2013 Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

PMID 24666684 2015 Marked, transient, emotion-triggered QT accentuation in an adolescent female with type 1 long QT syndrome.

PMID 12051962 2002 Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome.