scholarly journals Comparing the SCN5A Gene Sequence and Expression in Three Different Brugada Syndrome Profiles of Patients: New Insights for Genotype-Phenotype Correlation

2020 ◽  
Vol 20 (03) ◽  
Author(s):  
Amel Haj Khelil
Keyword(s):  
Brugada Syndrome ◽  
Gene Sequence ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Scn5a Gene

scholarly journals The numerous denominations of the Brugada syndrome and proposal about how to put an end to an old controversy - a historical-critical perspective

2020 ◽  
Vol 30 (3) ◽  
pp. 480-491
Author(s):  
Joseane Elza Tonussi Mendes ◽  
Kjell Nikus ◽  
Raimundo Barbosa-Barros ◽  
Andrés Ricardo Pérez-Riera
Keyword(s):  
Brugada Syndrome ◽  
Critical Perspective ◽  
Phenotype Correlation ◽  
First Report ◽  
The Past ◽  
Genotype Phenotype Correlation ◽  
Independent Entity

Backgroung: The eponymous Brugada Syndrome (BrS) in honor of its discovery as an independent entity by the Spanish/ Catalan Brugada brothers, Pedro and Josep, has deserved numerous denominations derived mainly from the clinical genotype/phenotype correlation. The purpose of this manuscript is to present and analyze the nomenclatures that this intriguing and challenging syndrome has received over the past 28 years. We also compared the main features between cases from the first report of the Brugada brothers and an article by Martini et al. The nomenclatures used by these authors are closely linked to the BrS, but the cases (except one) presented in the article by Martini et al do not present the type 1 Brugada ECG pattern, which is mandatory for the diagnosis of BrS.

scholarly journals Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome

Circulation ◽  
2017 ◽  
Vol 135 (23) ◽  
pp. 2255-2270 ◽  
Author(s):  
Kenichiro Yamagata ◽  
Minoru Horie ◽  
Takeshi Aiba ◽  
Satoshi Ogawa ◽  
Yoshifusa Aizawa ◽  
...  
Keyword(s):  
Brugada Syndrome ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Scn5a Mutation

A familial case of osteogenesis imperfecta: study of genotype-phenotype correlation

2013 ◽  
Author(s):  
Ponti Emanuela ◽  
Mihalich Alessandra ◽  
Broggi Francesca ◽  
Maria Di Blasio Anna ◽  
Luisa Bianchi Maria
Keyword(s):  
Osteogenesis Imperfecta ◽  
Familial Case ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation
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