Literature DB >> 25171853

Compound heterozygous mutations in the SCN5A-encoded Nav1.5 cardiac sodium channel resulting in atrial standstill and His-Purkinje system disease.

Shankar Baskar1, Michael J Ackerman2, Diane Clements3, Kenneth A Mayuga4, Peter F Aziz5.   

Abstract

An 11-year-old girl on evaluation for syncope was found to have progressive sinus node dysfunction and His-Purkinje system disease with atrial standstill. Genetic analysis revealed compound heterozygous mutations of the SCN5A gene in a novel combination.
Copyright © 2014 Elsevier Inc. All rights reserved.

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Year:  2014        PMID： 25171853     DOI： 10.1016/j.jpeds.2014.07.036

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  9 in total

Review 1.  The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and pathophysiology.

Authors:  Christiaan C Veerman; Arthur A M Wilde; Elisabeth M Lodder
Journal:  Gene       Date:  2015-09-08       Impact factor: 3.688

2.  Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel.

Authors:  Patrícia B S Celestino-Soper; Anisiia Doytchinova; Hillel A Steiner; Andrea Uradu; Ty C Lynnes; William J Groh; John M Miller; Hai Lin; Hongyu Gao; Zhiping Wang; Yunlong Liu; Peng-Sheng Chen; Matteo Vatta
Journal:  PLoS One       Date:  2015-12-04       Impact factor: 3.240

Review 3.  Inherited bradyarrhythmia: A diverse genetic background.

Authors:  Taisuke Ishikawa; Yukiomi Tsuji; Naomasa Makita
Journal:  J Arrhythm       Date:  2015-11-19

Review 4.  Genetic Complexity of Sinoatrial Node Dysfunction.

Authors:  Michael J Wallace; Mona El Refaey; Pietro Mesirca; Thomas J Hund; Matteo E Mangoni; Peter J Mohler
Journal:  Front Genet       Date:  2021-04-01       Impact factor: 4.599

5.  Left Atrial Inexcitability in Children With Congenital Lupus-Induced Complete Atrioventricular Block.

Authors:  Sylvia Abadir; Anne Fournier; Suzanne J Vobecky; Charles V Rohlicek; Philippe Romeo; Paul Khairy
Journal:  J Am Heart Assoc       Date:  2015-12-16       Impact factor: 5.501

6.  Atrial standstill in a pediatric patient with associated caveolin-3 mutation.

Authors:  Dana B Gal; Julianne Wojciak; Jennifer Perera; Ronn E Tanel; Akash R Patel
Journal:  HeartRhythm Case Rep       Date:  2017-09-05

Review 7.  SCN5A Variants: Association With Cardiac Disorders.

Authors:  Wenjia Li; Lei Yin; Cheng Shen; Kai Hu; Junbo Ge; Aijun Sun
Journal:  Front Physiol       Date:  2018-10-09       Impact factor: 4.566

8.  Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework.

Authors:  Liting Cheng; Xiaoyan Li; Lin Zhao; Zefeng Wang; Junmeng Zhang; Zhuo Liang; Yongquan Wu
Journal:  Int J Genomics       Date:  2020-02-25       Impact factor: 2.326

9.  Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts.

Authors:  Teresa Villarreal-Molina; Gabriela Paola García-Ordóñez; Álvaro E Reyes-Quintero; Mayra Domínguez-Pérez; Leonor Jacobo-Albavera; Santiago Nava; Alessandra Carnevale; Argelia Medeiros-Domingo; Pedro Iturralde
Journal:  Genes (Basel)       Date:  2021-12-22       Impact factor: 4.096
  9 in total

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