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.
authors.affiliation: Institute of Legal Medicine, Catholic University, School of Medicine, Rome, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Partemi
authors.forename: Sandrine
authors.initials: S
authors.lastname: Cestèle
authors.forename: Marianna
authors.initials: M
authors.lastname: Pezzella
authors.forename: Oscar
authors.initials: O
authors.lastname: Campuzano
authors.forename: Roberta
authors.initials: R
authors.lastname: Paravidino
authors.forename: Vincenzo L
authors.initials: VL
authors.lastname: Pascali
authors.forename: Federico
authors.initials: F
authors.lastname: Zara
authors.forename: Carlo Alberto
authors.initials: CA
authors.lastname: Tassinari
authors.forename: Salvatore
authors.initials: S
authors.lastname: Striano
authors.forename: Antonio
authors.initials: A
authors.lastname: Oliva
authors.forename: Ramon
authors.initials: R
authors.lastname: Brugada
authors.forename: Massimo
authors.initials: M
authors.lastname: Mantegazza
authors.forename: Pasquale
authors.initials: P
authors.lastname: Striano
mesh_terms: D000293:Adolescent; D001426:Bacterial Proteins / Q000235:genetics / Q000378:metabolism; D055592:Biophysical Phenomena / Q000235:genetics; D002461:Cell Line, Transformed; D004252:DNA Mutational Analysis; D003645:Death, Sudden; D000072237:ERG1 Potassium Channel; D004558:Electric Stimulation; D004562:Electrocardiography; D004827:Epilepsy / Q000150:complications / Q000235:genetics*; D051638:Ether-A-Go-Go Potassium Channels / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008133:Long QT Syndrome / Q000150:complications / Q000235:genetics*; D008164:Luminescent Proteins / Q000235:genetics / Q000378:metabolism; D008564:Membrane Potentials / Q000187:drug effects / Q000235:genetics; D018408:Patch-Clamp Techniques; D017354:Point Mutation / Q000235:genetics; D014162:Transfection; D014429:Twins, Dizygotic / Q000235:genetics
chemical_list: D001426:Bacterial Proteins; D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C000606913:KCNH2 protein, human; D008164:Luminescent Proteins; C054562:yellow fluorescent protein, Bacteria
keywords: Channelopathy; Epilepsy; KCNH2; Long QT syndrome; Sudden death