Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death
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Updated: May 9, 2026

Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes
Published on: March 12, 2013
Sara Partemi1, Sandrine Cestèle, Marianna Pezzella
1Institute of Legal Medicine, Catholic University, School of Medicine, Rome, Italy.
Abstract:
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.
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