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18 Possible Causes for Mutation in the HCN4 Gene

  • Cardiac Arrhythmia

    A novel mutation in the HCN4 gene causes symptomatic sinus bradycardia in Moroccan Jews.[ncbi.nlm.nih.gov] A novel mutation in the HCN4 gene causes familial sinus bradycardia in two unrelated Moroccan families [abstract] Heart Rhythm. 2008; 5S :S275. [ Google Scholar ] 12.[ncbi.nlm.nih.gov]

  • Sinus Bradycardia

    […] in the HCN4 gene causing symptomatic FSB in 3 unrelated individuals of similar ethnic background that may indicate unexplained FSB in this ethnic group.[ncbi.nlm.nih.gov] We found that sinus bradycardia in members of a large family was associated with a mutation in the gene coding for the pacemaker HCN4 ion channel.[ncbi.nlm.nih.gov] Parasympathetic hyperactivity, instead of HCN4 gene mutation, is responsible for the occurrence of sinus bradycardia. Copyright 2013 Mosby, Inc. All rights reserved.[ncbi.nlm.nih.gov]

  • Sick Sinus Syndrome

    Mutations in HCN4, the gene encoding inward Na /K current (If), have been described as a cause of congenital SSS.[ncbi.nlm.nih.gov] Mutations in two genes, SCN5A and HCN4 , have been found to cause the condition in a small number of families.[ghr.nlm.nih.gov] Further, the risk of both SSS and AF is elevated in association with polymorphisms and mutations in the HCN4 gene [32] , which encodes the hyperpolarization-activated ion[journals.plos.org]

  • Atrial Fibrillation

    To date, at least 15 AF-causing mutations in K channel genes or accessory subunit have been identified, 34 including mutations in ABCC9 ( I KATP ), HCN4 ( I f ), KCNA5 ( I[doi.org]

  • Bradycardia

    The molecular analysis, performed by NGS sequencing, led to identify only one likely-disease causing variation: p.Gly482Arg on HCN4 gene.[ncbi.nlm.nih.gov] Article Figures/Media 25 References 241 Citing Articles Summary We found that sinus bradycardia in members of a large family was associated with a mutation in the gene coding[nejm.org] Our results confirm the genetic evidence for the involvement of the HCN4 mutations in the combined bradycardia-NCCM phenotype and illustrates that, in front of this combined[ncbi.nlm.nih.gov]

  • Bradyarrhythmia

    Mutations in the genes SCN5A, HCN4, and MYH6 have been described [4]. The most common intrinsic and extrinsic causes of bradyarrhythmias are listed in table 1.[cardiovascmed.ch] […] have been identified in the gene for the cardiac sodium channel (SCN5A) and in the gene for HCN4 responsible for the funny current (I f ) in human nodal tissue. 33, 38, 39[revespcardiol.org] […] with autosomal dominant inheritance with reduced penetrance or recessive inheritance have been described. 33, 35, 36, 37 In these patients with isolated or idiopathic SND, mutations[revespcardiol.org]

  • Lenegre Disease

    […] in the HCN4 gene (605206).[findzebra.com] . - Genetic Heterogeneity In addition to the familial autosomal recessive form (SSS1), an autosomal dominant form of sick sinus syndrome (SSS2; 163800) is caused by mutation[findzebra.com]

  • Sinus Tachycardia

    Deep bradycardia and heart block caused by inducible cardiac-specific knockout of the pacemaker channel gene Hcn4. Proc Natl Acad Sci USA 2011 ; 108 : 1705 – 1710. 4.[eurheartj.oxfordjournals.org] Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel. N Engl J Med 2006 ; 354 : 151 – 157. 5.[eurheartj.oxfordjournals.org]

  • Brugada Syndrome

    The most commonly mutated gene leading to BrS is SCN5A , accounting for 30% of affected individuals.[snpedia.com] genes additionally included in this panel.[admerahealth.com] Since then, more than 350 pathogenic mutations in several genes have been published ( SCN5A, GPD1L, SCN1B, SCN2B, SCN3B, RANGRF, SLMAP, KCNE3, KCNJ8, HCN4, KCNE5, KCND3, CACNA1C[ncbi.nlm.nih.gov]

  • AV Block Mobitz I

    Mutations in the genes SCN5A, HCN4, and MYH6 have been described [4]. The most common intrinsic and extrinsic causes of bradyarrhythmias are listed in table 1.[cardiovascmed.ch] […] have been identified in the gene for the cardiac sodium channel (SCN5A) and in the gene for HCN4 responsible for the funny current (I f ) in human nodal tissue. 33, 38, 39[revespcardiol.org] […] with autosomal dominant inheritance with reduced penetrance or recessive inheritance have been described. 33, 35, 36, 37 In these patients with isolated or idiopathic SND, mutations[revespcardiol.org]

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