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

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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
JournalEpilepsia
Volume54
Issue number8
DOIs
Publication statusPublished - Aug 2013

Keywords

  • Channelopathy
  • Epilepsy
  • KCNH2
  • Long QT syndrome
  • Sudden death

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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