Literature DB >> 24694743

SCN5A mutations associated with overlap phenotype of long QT syndrome type 3 and Brugada syndrome.

Haruaki Nakaya1.   

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Year:  2014        PMID： 24694743     DOI： 10.1253/circj.cj-14-0319

Source DB:  PubMed          Journal:  Circ J        ISSN： 1346-9843            Impact factor:   2.993


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  5 in total

1.  Functional characterization of a novel SCN5A variant associated with long QT syndrome and sudden cardiac death.

Authors:  Jacqueline Neubauer; Zizun Wang; Jean-Sébastien Rougier; Hugues Abriel; Claudine Rieubland; Deborah Bartholdi; Cordula Haas; Argelia Medeiros-Domingo
Journal:  Int J Legal Med       Date:  2019-08-27       Impact factor: 2.686

2.  SCN5A (NaV1.5) Variant Functional Perturbation and Clinical Presentation: Variants of a Certain Significance.

Authors:  Brett M Kroncke; Andrew M Glazer; Derek K Smith; Jeffrey D Blume; Dan M Roden
Journal:  Circ Genom Precis Med       Date:  2018-05

Review 3.  Brugada syndrome: clinical and genetic findings.

Authors:  Georgia Sarquella-Brugada; Oscar Campuzano; Elena Arbelo; Josep Brugada; Ramon Brugada
Journal:  Genet Med       Date:  2015-04-23       Impact factor: 8.822

4.  Identification of rare heterozygous linkage R965C-R1309H mutations in the pore-forming region of SCN5A gene associated with complex arrhythmia.

Authors:  Yubi Lin; Jiading Qin; Yuhui Shen; Jiana Huang; Zuoquan Zhang; ZhiLing Zhu; Huifang Lu; Yin Huang; Yuelan Yin; Ani Wang; Lizi Jin; Zhenyu Hu; Xiufang Lin; Bin Jiang
Journal:  Mol Genet Genomic Med       Date:  2021-03-25       Impact factor: 2.183

5.  Mexiletine in a Newborn with Type 3 Long QT Syndrome: When Access is Difficult.

Authors:  Eduardo Nolla Silva Pereira; Luciana Sacilotto; Gabrielle D'Arezzo Pessente; Cinthya Guirao; Mariana Lombardi Peres de Carvalho; Alexandre da Costa Pereira; Francisco Carlos da Costa Darrieux; Maurício Ibrahim Scanavacca
Journal:  Arq Bras Cardiol       Date:  2022-05       Impact factor: 2.667
  5 in total

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