Ontology highlight
ABSTRACT:
SUBMITTER: Osterbur Badhey ML
PROVIDER: S-EPMC5671924 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Osterbur Badhey Marika L ML Bertalovitz Alexander C AC McDonald Thomas V TV
Journal of cardiovascular electrophysiology 20170623 9
<h4>Introduction</h4>Genetic mutations in KCNH2, which encodes hERG, the alpha subunit of the potassium channel responsible for the I<sub>Kr</sub> current, cause long QT syndrome (LQTS), an inherited cardiac arrhythmia disorder. Electrophysiology techniques are used to correlate genotype with molecular phenotype to determine which mutations identified in patients diagnosed with LQTS are disease causing, and which are benign. These investigations are usually done using heterologous expression in ...[more]