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 Lorenzo Pascali, Federico Zara, Carlo Alberto Tassinari, Salvatore Striano, Antonio Oliva, Ramon Brugada, Massimo Mantegazza, Pasquale Striano

Risultato della ricerca: Contributo in rivistaArticolo in rivista

38 Citazioni (Scopus)


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.
Lingua originaleEnglish
pagine (da-a)e112-e112-6
Stato di pubblicazionePubblicato - 2013


  • Adolescent
  • Bacterial Proteins
  • Biophysical Phenomena
  • Cell Line, Transformed
  • Channelopathy
  • DNA Mutational Analysis
  • Death, Sudden
  • Electric Stimulation
  • Electrocardiography
  • Epilepsy
  • Ether-A-Go-Go Potassium Channels
  • Family Health
  • Female
  • Humans
  • KCNH2
  • Long QT Syndrome
  • Long QT syndrome
  • Luminescent Proteins
  • Membrane Potentials
  • Patch-Clamp Techniques
  • Point Mutation
  • Sudden death
  • Transfection
  • Twins, Dizygotic


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