@article{d2873811c3bc41bf96cb9998d02de9ee,
title = "Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death",
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.",
keywords = "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, 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",
author = "Sara Partemi and Sandrine Cest{\`e}le and Marianna Pezzella and Oscar Campuzano and Roberta Paravidino and Pascali, {Vincenzo Lorenzo} and Federico Zara and Tassinari, {Carlo Alberto} and Salvatore Striano and Antonio Oliva and Ramon Brugada and Massimo Mantegazza and Pasquale Striano",
year = "2013",
doi = "10.1111/epi.12259",
language = "English",
volume = "54",
pages = "e112--e112--6",
journal = "Epilepsia",
issn = "1528-1167",
publisher = "Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320",
}