Condition: Short QT Syndrome 1


rs104894021 in KCNH2 gene and Short QT Syndrome 1 PMID 14676148 2004 Sudden death associated with short-QT syndrome linked to mutations in HERG.

PMID 15828882 2005 Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.

PMID 10483966 1999 Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects.

PMID 19490267 2009 Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype.

PMID 22949429 2012 Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.

PMID 10862094 2000 Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects.