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An elderly Jervell and Lange-Nielsen patient heterozygous compound for two new KCNQ1 mutations.
Coto, Eliecer; García-Fernández, Francisco J; Calvo, David; Salgado-Aranda, Ricardo; Martín-González, Javier; Alonso, Belén; Iglesias, Sara; Gómez, Juan.
Afiliación
  • Coto E; Genética Molecular and Cardiología, HUCA, Oviedo, Spain.
  • García-Fernández FJ; Department Medicina, Universidad Oviedo, Oviedo, Spain.
  • Calvo D; Unidad de Arritmias, Hospital Burgos, Burgos, Spain.
  • Salgado-Aranda R; Genética Molecular and Cardiología, HUCA, Oviedo, Spain.
  • Martín-González J; Unidad de Arritmias, Hospital Burgos, Burgos, Spain.
  • Alonso B; Unidad de Arritmias, Hospital Burgos, Burgos, Spain.
  • Iglesias S; Genética Molecular and Cardiología, HUCA, Oviedo, Spain.
  • Gómez J; Genética Molecular and Cardiología, HUCA, Oviedo, Spain.
Am J Med Genet A ; 173(3): 749-752, 2017 Mar.
Article en En | MEDLINE | ID: mdl-27868350
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Jervell-Lange Nielsen / Canal de Potasio KCNQ1 / Heterocigoto / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Aged / Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: España Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Jervell-Lange Nielsen / Canal de Potasio KCNQ1 / Heterocigoto / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Aged / Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: España Pais de publicación: Estados Unidos