Condition: Long Qt Syndrome 2


rs121912504 in KCNH2 gene and Long Qt Syndrome 2 PMID 12062363 2002 Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome.

PMID 11170080 2001 Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG.

PMID 16922724 2006 Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

PMID 12442276 2002 KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.

PMID 10973849 2000 Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

PMID 16361248 2006 Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome.

PMID 8635257 1996 Missense mutation in the pore region of HERG causes familial long QT syndrome.

PMID 10753933 2000 The dominant negative LQT2 mutation A561V reduces wild-type HERG expression.

PMID 10517660 1999 Characterization of a novel missense mutation in the pore of HERG in a patient with long QT syndrome.

PMID 10220144 1999 Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

PMID 12621127 2003 Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome.

PMID 10187793 1999 Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation.

PMID 10735633 2000 Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2.

PMID 9693036 1998 Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

PMID 9452080 1998 Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family.

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 8914737 1996 Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome.

PMID 7889573 1995 A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.

PMID 9024139 1997 Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.

PMID 9544837 1998 Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 21810866 2011 HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

PMID 10862094 2000 Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects.

PMID 27041096 2016 Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity?

PMID 27816319 2017 Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote.

PMID 24057343 2014 Congenital long QT syndrome with compound mutations in the KCNH2 gene.

PMID 19843919 2009 Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome.

PMID 22949429 2012 Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.

PMID 19160088 2009 High prevalence of four long QT syndrome founder mutations in the Finnish population.

PMID 10841244 2000 Homozygosity for a HERG potassium channel mutation causes a severe form of long QT syndrome: identification of an apparent founder mutation in the Finns.

PMID 10483966 1999 Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects.

PMID 15176425 2004 Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.

PMID 18441445 2008 Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome.

PMID 18752142 2008 Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.

PMID 19841300 2009 Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

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

PMID 19070294 2008 Identification of the gene causing long QT syndrome in an Israeli family.

PMID 10560244 1999 Romano-Ward long QT syndrome: identification of a HERG mutation in a Taiwanese kindred.

PMID 27041150 2016 KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.

PMID 17905336 2007 Long QT and Brugada syndrome gene mutations in New Zealand.

PMID 22429796 2012 End-recovery QTc: a useful metric for assessing genetic variants of unknown significance in long-QT syndrome.

PMID 19490267 2009 Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype.

PMID 22052944 2012 Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture.

PMID 16754261 2006 Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients.

PMID 26063740 2015 Follow-up of 316 molecularly defined pediatric long-QT syndrome patients: clinical course, treatments, and side effects.

PMID 24015048 2013 Single nucleotide deletion mutation of KCNH2 gene is responsible for LQT syndrome in a 3-generation Korean family.

PMID 17060380 2006 Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.