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

Creators: 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

Others:: Institute of Legal Medicine ; Catholic University; Institut de pharmacologie moléculaire et cellulaire (IPMC) ; Université Nice Sophia Antipolis (1965 - 2019) (UNS) ; COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS); Pediatric Neurology and Neuromuscular Diseases Unit ; Università degli studi di Genova = University of Genoa (UniGe); Cardiovascular Genetics Center ; Universitat de Girona (UdG); Pediatric Neurology and Neuromuscular Diseases Unit ; Institute G. Gaslini; Department of Neurological Sciences ; Alma Mater Studiorum Università di Bologna [Bologna] (UNIBO); Epilepsy Center ; University of Naples Federico II = Università degli studi di Napoli Federico II; Department of Neurophysiopathology ; IRCCS

Description

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.

Abstract

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

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