Loss‐of‐function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death. Issue 8 (30th July 2013)

• Record Type: Journal Article
• Authors: Partemi, Sara; Cestèle, Sandrine; Pezzella, Marianna; Campuzano, Oscar; Paravidino, Roberta; Pascali, Vincenzo L.; Zara, Federico; Tassinari, Carlo Alberto; Striano, Salvatore; Oliva, Antonio; Brugada, Ramon; Mantegazza, Massimo; Striano, Pasquale
• Is Part Of: Epilepsia. Volume 54:Issue 8(2013:Aug.)
• Page Start: e112
• Page End: e116
• Publication Date: 2013-07-30
• Subjects: Epilepsy -- Periodicals; 616.853
• DOI: 10.1111/epi.12259
• Languages: English
• ISSNs: 0013-9580

Abstract

<abstract abstract-type="main" id="epi12259-abs-0001"> <title>Summary</title> <p>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&gt;C) in the <italic>KCNH2</italic> 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.</p> </abstract>