Condition: LONG QT SYNDROME 3


rs137854600 in SCN5A gene and LONG QT SYNDROME 3 PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PMID 12209021 2002 A novel SCN5A mutation associated with long QT-3: altered inactivation kinetics and channel dysfunction.

PMID 12454206 2003 A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.

PMID 11410597 2001 Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes.

PMID 10627139 1998 Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome. Mutations in brief no. 153. Online.

PMID 11304498 2001 Novel arrhythmogenic mechanism revealed by a long-QT syndrome mutation in the cardiac Na(+) channel.

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

PMID 10508990 1999 Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations.

PMID 10911008 2000 A molecular link between the sudden infant death syndrome and the long-QT syndrome.

PMID 9686753 1998 Novel LQT-3 mutation affects Na+ channel activity through interactions between alpha- and beta1-subunits.

PMID 16922724 2006 Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with 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 9506831 1998 Here we characterized a de novo missense mutation (R1623Q, S4 segment of domain 4) identified in an infant Japanese girl with a severe form of LQT3.

PMID 18451998 2008 The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.

PMID 18929331 2008 A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation.

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 16414944 2005 Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

PMID 26392562 2015 SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia.

PMID 18060054 2007 A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response.

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

PMID 7651517 1995 Molecular mechanism for an inherited cardiac arrhythmia.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome 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 8541846 1995 Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.

PMID 18451998 2008 Heterologously expressed E1784K channels showed a 15.0-mV negative shift in the voltage dependence of Na channel inactivation and a 7.5-fold increase in flecainide affinity for resting-state channels, properties also seen with other LQT3 mutations associated with a mixed clinical phenotype.

PMID 24871449 2014 High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands.

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

PMID 24784157 2014 The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.

PMID 10727653 2000 Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes.

PMID 9506831 1998 A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome.

PMID 14523039 2003 Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).

PMID 20539757 2010 Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome.

PMID 16325048 2005 High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations.

PMID 15840483 2005 Novel Brugada SCN5A mutation causing sudden death in children.

PMID 12209021 2002 Here we describe a novel LQT-3 mutation I1768V (I1768V) located in the sixth transmembrane spanning segment of domain IV.

PMID 17210841 2007 Cardiac sodium channel dysfunction in sudden infant death syndrome.

PMID 17646591 2007 "Letter by O'Rourke regarding articles, ""Prevalence of long-QT syndrome gene variants in sudden infant death syndrome,"" ""Cardiac sodium channel dysfunction in sudden infant death syndrome,"" and ""Contribution of long-QT syndrome genes to sudden infant death syndrome: is it time to consider newborn electrocardiographic screening?""."

PMID 18451998 2008 Furthermore, these properties were absent in Na channels harboring the T1304M mutation, which is associated with LQT3 without a mixed clinical phenotype.

PMID 22685113 2012 High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation.

PMID 22378279 2012 High prevalence of genetic variants previously associated with LQT syndrome in new exome data.

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

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

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 15665061 2005 Reduced voltage dependence of inactivation in the SCN5A sodium channel mutation delF1617.