Arrhythmogenic Biophysical Phenotype for SCN5A Mutation S1787N Depends upon Splice Variant Background and Intracellular Acidosis

Lignende værker

• Mexiletine rescues a mixed biophysical phenotype of the cardiac sodium channel arising from the SCN5A mutation, N406K, found in LQT3 patients
  af: Hu, Rou-Mu, et al.
  Udgivet: (2018)
• 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
  af: Hu, Rou-Mu, et al.
  Udgivet: (2021)
• Digenic inheritance novel mutations in SCN5a and SNTA1 increase late I(Na) contributing to LQT syndrome
  af: Hu, Rou-Mu, et al.
  Udgivet: (2013)
• The common African American polymorphism SCN5A-S1103Y interacts with mutation SCN5A-R680H to increase late Na current
  af: Cheng, Jianding, et al.
  Udgivet: (2011)
• PKA-Dependent Biophysical Phenotype for V227F-KCNJ2 Mutation in Catecholaminergic Polymorphic Ventricular Tachycardia
  af: Vega, Amanda L., et al.
  Udgivet: (2009)