title: An elderly Jervell and Lange-Nielsen patient heterozygous compound for two new KCNQ1 mutations.
abstract: We present the case of a 66-year-old female with early onset deafness and seizures, who was diagnosed with epilepsy at the age of 2 years. She received antiepileptic drugs and was free of syncope episodes for 32 years. After a syncope at the age of 34, the ECG was characteristic of long-QT syndrome and was treated with antiarrhythmic drugs. Sequencing of the KCNQ1 gene identified two novel KCNQ1 variants interpreted to be pathogenic, and the patient was finally diagnosed with Jervell and Lange-Nielsen syndrome. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Genética Molecular and Cardiología, HUCA, Oviedo, Spain.|Department Medicina, Universidad Oviedo, Oviedo, Spain.
authors.forename: Eliecer
authors.initials: E
authors.lastname: Coto
authors.affiliation: Unidad de Arritmias, Hospital Burgos, Burgos, Spain.
authors.forename: Francisco J
authors.initials: FJ
authors.lastname: García-Fernández
authors.affiliation: Genética Molecular and Cardiología, HUCA, Oviedo, Spain.
authors.forename: David
authors.initials: D
authors.lastname: Calvo
authors.affiliation: Unidad de Arritmias, Hospital Burgos, Burgos, Spain.
authors.forename: Ricardo
authors.initials: R
authors.lastname: Salgado-Aranda
authors.affiliation: Unidad de Arritmias, Hospital Burgos, Burgos, Spain.
authors.forename: Javier
authors.initials: J
authors.lastname: Martín-González
authors.affiliation: Genética Molecular and Cardiología, HUCA, Oviedo, Spain.
authors.forename: Belén
authors.initials: B
authors.lastname: Alonso
authors.affiliation: Genética Molecular and Cardiología, HUCA, Oviedo, Spain.
authors.forename: Sara
authors.initials: S
authors.lastname: Iglesias
authors.affiliation: Genética Molecular and Cardiología, HUCA, Oviedo, Spain.
authors.forename: Juan
authors.initials: J
authors.lastname: Gómez
mesh_terms: D000368:Aged; D004252:DNA Mutational Analysis; D057210:Delayed Diagnosis; D004562:Electrocardiography; D005091:Exons; D005260:Female; D056726:Genetic Association Studies; D006579:Heterozygote; D006801:Humans; D029593:Jervell-Lange Nielsen Syndrome / Q000175:diagnosis* / Q000235:genetics*; D051657:KCNQ1 Potassium Channel / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D017422:Sequence Analysis, DNA
chemical_list: D051657:KCNQ1 Potassium Channel
keywords: Jervell and Lange Nielsen; KCNQ1 mutation; long QT syndrome