Condition: Romano-Ward Syndrome


rs1060502607 in CALM3 gene and Romano-Ward Syndrome PMID 23388215 2013 Calmodulin mutations associated with recurrent cardiac arrest in infants.

PMID 24816216 2014 Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca(2+) currents and promote proarrhythmic behavior in ventricular myocytes.

PMID 26969752 2016 Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G.

PMID 24958779 2014 Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms.

PMID 24563457 2014 Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants.

rs17215500 in KCNQ1 gene and Romano-Ward Syndrome PMID 10482963 1999 Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.

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

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

PMID 24552659 2014 Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families.

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

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

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

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

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

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

PMID 23392653 2013 Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity.

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

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

PMID 9386136 1997 KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.

PMID 9312006 1997 Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias.

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

PMID 10728423 2000 Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk.

PMID 21350584 2011 Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome.

PMID 22429796 2012 End-recovery QTc: a useful metric for assessing genetic variants of unknown significance 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 15466642 2004 Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.

rs786204395 in PKP2 gene and Romano-Ward Syndrome PMID 20152563 2010 Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.

PMID 24070718 2013 Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy.

PMID 23168288 2013 Desmin mutations and arrhythmogenic right ventricular cardiomyopathy.

rs137854601 in SCN5A gene and Romano-Ward Syndrome PMID 10727653 2000 Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes.

PMID 21321465 2011 Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome.

PMID 10377081 1999 Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.

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

PMID 18508782 2008 Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families.

PMID 20564468 2010 A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction disease.