title: Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant.
abstract: OBJECTIVE
  Ion channels are expressed both in the heart and in the brain, being advocated as responsible for sudden unexpected death in epilepsy but few pathogenic mutations have been identified. We aim to identify a novel gen associated with channelopathies and epilepsy in a family.
  
  
  METHODS
  We assessed a family showing epilepsy concomitant with LQTS. Index case showed prolonged QT interval. His father suffers of LQT and epilepsy. We performed a direct sequencing analysis of KCNQ1, KCNH2, KCNE1, KCNE2 and SCN5A genes.
  
  
  RESULTS
  We identified a non-synonymous heterozygous missense pathogenic mutation (p.L273F) in exon 6 of the KCNQ1 gene. All clinically affected relatives carried the same mutation.
  
  
  CONCLUSIONS
  We report, for a first time, a KCNQ1 mutation in a family suffering of both phenotypes, suggesting that KCNQ1 genetic variations may confer susceptibility for recurrent seizure activity increasing the risk or lead to sudden death.
authors: Cardiology Service, Hospital Josep Trueta, Girona, Spain; Cardiology Department, Hospital of Palamós, Palamós, Spain.
authors: Coloma
authors: C
authors: Tiron
authors: Coloma Tiron
authors: CT
authors: de Llano
authors: Cardiovascular Genetics Center, Institut d'Investigació Biomèdica de Girona-IDIBGI, Unversitat de Girona, Girona, Spain; Medical Science Department, School of Medicine, University of Girona, Girona, Spain.
authors: Oscar
authors: O
authors: Campuzano
authors: Cardiovascular Genetics Center, Institut d'Investigació Biomèdica de Girona-IDIBGI, Unversitat de Girona, Girona, Spain.
authors: Alexandra
authors: A
authors: Pérez-Serra
authors: Cardiovascular Genetics Center, Institut d'Investigació Biomèdica de Girona-IDIBGI, Unversitat de Girona, Girona, Spain.
authors: Irene
authors: I
authors: Mademont
authors: Cardiovascular Genetics Center, Institut d'Investigació Biomèdica de Girona-IDIBGI, Unversitat de Girona, Girona, Spain.
authors: Monica
authors: M
authors: Coll
authors: Cardiovascular Genetics Center, Institut d'Investigació Biomèdica de Girona-IDIBGI, Unversitat de Girona, Girona, Spain.
authors: Catarina
authors: C
authors: Allegue
authors: Cardiovascular Genetics Center, Institut d'Investigació Biomèdica de Girona-IDIBGI, Unversitat de Girona, Girona, Spain.
authors: Anna
authors: A
authors: Iglesias
authors: Institute of Public Health Section of Legal Medicine, School of Medicine, Catholic University, Rome, Italy.
authors: Sara
authors: S
authors: Partemi
authors: Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, "G. Gaslini" Institute, Genova, Italy.
authors: Pasquale
authors: P
authors: Striano
authors: Institute of Public Health Section of Legal Medicine, School of Medicine, Catholic University, Rome, Italy.
authors: Antonio
authors: A
authors: Oliva
authors: Cardiology Service, Hospital Josep Trueta, Girona, Spain; Cardiovascular Genetics Center, Institut d'Investigació Biomèdica de Girona-IDIBGI, Unversitat de Girona, Girona, Spain; Medical Science Department, School of Medicine, University of Girona, Girona, Spain. Electronic address: ramon@brugada.org.
authors: Ramon
authors: R
authors: Brugada
mesh_terms: D000328:Adult; D004827:Epilepsy / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D005091:Exons; D005190:Family; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D051657:KCNQ1 Potassium Channel / Q000235:genetics*; D008133:Long QT Syndrome / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D055815:Young Adult
chemical_list: D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human
keywords: Epilepsy; KCNQ1; Long QT syndrome