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GENATLAS PHENOTYPE
last update : 21-11-2016
Symbol BRGS1
Location 3p22.2
Name Brugada syndrome 1
Other name(s)
  • sudden unexplained nocturnal death syndrome
  • right bundle branch block, ST segment elevation, and sudden death syndrome
    • Corresponding gene SCN5A
    Other symbol(s) SUNDS, BRGDA1
    Main clinical features
  • idiopathic ventricular fibrillation, with a distinctive ECG pattern characterized by an upsloping ST segment in the right precordial leads ('early repolarization') in association with right bundle branch block and T-wave inversion, and in any cases to sinus node dysfunction
  • increased risk of cardiac arrhythmia and sudden death (PMID: 19606473))
  • the electrophysiological phenotype is temperature dependent, and can be precipitated by fever (PMID: 19606473)) particularly in children
    • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     may be associated with an increase in inward sodium current during the action potential upstroke
    missense   abnormal protein/loss of function E161K, leading to loss of sodium channel function, not only associated with Brugada syndrome and conduction disease, but may also cause sinus node dysfunction
    Remark(s)