PubMed 23899126

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: KCNQ1 , Kv11.1 , Kv7.1

Title: Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death.

Authors: Sara Partemi, Sandrine Cestèle, Marianna Pezzella, Oscar Campuzano, Roberta Paravidino, Vincenzo L Pascali, Federico Zara, Carlo Alberto Tassinari, Salvatore Striano, Antonio Oliva, Ramon Brugada, Massimo Mantegazza, Pasquale Striano

Journal, date & volume: Epilepsia, 2013 Aug , 54, e112-6

PubMed link:

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.