Genomes and Genes
Experts and Doctors on electrocardiography in Nantes, Pays de la Loire, France
Locale: Nantes, Pays de la Loire, France
- Royer A, van Veen T, Le Bouter S, Marionneau C, Griol Charhbili V, Leoni A, et al. Mouse model of SCN5A-linked hereditary Lenègre's disease: age-related conduction slowing and myocardial fibrosis. Circulation. 2005;111:1738-46 pubmed..Our work provides the first demonstration that a monogenic ion channel defect can progressively lead to myocardial structural anomalies. ..
- Probst V, Wilde A, Barc J, Sacher F, Babuty D, Mabo P, et al. SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome. Circ Cardiovasc Genet. 2009;2:552-7 pubmed publisher..These findings add further complexity to concepts regarding the causes of BrS, and are consistent with the emerging notion that the pathophysiology of BrS includes various elements beyond mutant sodium channels. ..
- Leoni A, Gavillet B, Rougier J, Marionneau C, Probst V, Le Scouarnec S, et al. Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model. PLoS ONE. 2010;5:e9298 pubmed publisher..Scn5a(+/-) mice show similar phenotypic heterogeneity as SCN5A-mutated patients. In Scn5a(+/-) mice, phenotype severity correlates with wild-type Na(v)1.5 protein expression. ..
- Barc J, Briec F, Schmitt S, Kyndt F, Le Cunff M, Baron E, et al. Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance. J Am Coll Cardiol. 2011;57:40-7 pubmed publisher..Thus, we propose that CNV screening in KCNQ1 and KCNH2 may be performed routinely in LQTS patients. ..
- Roten L, Derval N, Maury P, Mahida S, Pascale P, Leenhardt A, et al. Benign vs. malignant inferolateral early repolarization: Focus on the T wave. Heart Rhythm. 2016;13:894-902 pubmed publisher..The combination of these parameters with J-wave amplitude and distribution of J waves may allow for improved identification of malignant ER. ..
- Seki A, Ishikawa T, Daumy X, Mishima H, Barc J, Sasaki R, et al. Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation. J Am Coll Cardiol. 2017;70:358-370 pubmed publisher..Altogether, the authors showed that Cx45 mutant p.R75H is responsible for a novel disease entity of progressive atrial conduction system defects associated with craniofacial and dentodigital malformation. ..