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Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients.
Smits JP, Eckardt L, Probst V, Bezzina CR, Schott JJ, Remme CA, Haverkamp W, Breithardt G, Escande D, Schulze-Bahr E, LeMarec H, Wilde AA. Smits JP, et al. Among authors: escande d. J Am Coll Cardiol. 2002 Jul 17;40(2):350-6. doi: 10.1016/s0735-1097(02)01962-9. J Am Coll Cardiol. 2002. PMID: 12106943 Free article.
14-3-3 is a regulator of the cardiac voltage-gated sodium channel Nav1.5.
Allouis M, Le Bouffant F, Wilders R, Péroz D, Schott JJ, Noireaud J, Le Marec H, Mérot J, Escande D, Baró I. Allouis M, et al. Among authors: escande d. Circ Res. 2006 Jun 23;98(12):1538-46. doi: 10.1161/01.RES.0000229244.97497.2c. Epub 2006 May 25. Circ Res. 2006. PMID: 16728661
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.
Leoni AL, Gavillet B, Rougier JS, Marionneau C, Probst V, Le Scouarnec S, Schott JJ, Demolombe S, Bruneval P, Huang CL, Colledge WH, Grace AA, Le Marec H, Wilde AA, Mohler PJ, Escande D, Abriel H, Charpentier F. Leoni AL, et al. Among authors: escande d. PLoS One. 2010 Feb 19;5(2):e9298. doi: 10.1371/journal.pone.0009298. PLoS One. 2010. PMID: 20174578 Free PMC article.
Cardiac conduction defects associate with mutations in SCN5A.
Schott JJ, Alshinawi C, Kyndt F, Probst V, Hoorntje TM, Hulsbeek M, Wilde AA, Escande D, Mannens MM, Le Marec H. Schott JJ, et al. Among authors: escande d. Nat Genet. 1999 Sep;23(1):20-1. doi: 10.1038/12618. Nat Genet. 1999. PMID: 10471492 No abstract available.
141 results