There has been increased interest in a possible association between epilepsy channelopathies and cardiac arrhythmias, such as long QT syndrome (LQTS). We report a kindred that features LQTS, idiopathic epilepsy, and increased risk of sudden death. Genetic study showed a previously unreported heterozygous point mutation (c.246T > C) in the KCNH2 gene. Functional studies showed that the mutation induces severe loss of function. This observation provides further evidence for a possible link between idiopathic epilepsy and LQTS.
|Journal||Forensic Science International: Genetics Supplement Series|
|Publication status||Published - 2013|
- LQT syndrome
ASJC Scopus subject areas
- Pathology and Forensic Medicine