An elderly Jervell and Lange-Nielsen patient heterozygous compound for two new KCNQ1 mutations.
Am J Med Genet A
; 173(3): 749-752, 2017 Mar.
Article
em En
| MEDLINE
| ID: mdl-27868350
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.
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Base de dados:
MEDLINE
Assunto principal:
Síndrome de Jervell-Lange Nielsen
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Canal de Potássio KCNQ1
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Heterozigoto
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Mutação
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article