Expression defect of the rare variant/Brugada mutation R1512W depends upon the SCN5A splice variant background and can be rescued by mexiletine and the common polymorphism H558R

Samankaltaisia teoksia

• Mexiletine rescues a mixed biophysical phenotype of the cardiac sodium channel arising from the SCN5A mutation, N406K, found in LQT3 patients
  Tekijä: Hu, Rou-Mu, et al.
  Julkaistu: (2018)
• Arrhythmogenic Biophysical Phenotype for SCN5A Mutation S1787N Depends upon Splice Variant Background and Intracellular Acidosis
  Tekijä: Hu, Rou-Mu, et al.
  Julkaistu: (2015)
• H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters
  Tekijä: Hiroya Matsumura, et al.
  Julkaistu: (2017-12-01)
• H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters
  Tekijä: Matsumura, Hiroya, et al.
  Julkaistu: (2017)
• Enhanced Classification of Brugada Syndrome–Associated and Long-QT Syndrome–Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel
  Tekijä: Kapplinger, Jamie D., et al.
  Julkaistu: (2015)