An elderly Jervell and Lange-Nielsen patient heterozygous compound for two new KCNQ1 mutations
Author:
Affiliation:
1. Genética Molecular and Cardiología; HUCA; Oviedo Spain
2. Department Medicina; Universidad Oviedo; Oviedo Spain
3. Unidad de Arritmias; Hospital Burgos; Burgos Spain
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference15 articles.
1. Epilepsy: A presentation of the RomanoWard syndrome;Ballardie;Br Med J (Clin Res Ed),1983
2. Torsade de pointes in a patient with complete atrioventricular block and pacemaker failure, misdiagnosed with epilepsy;Cai;J Electrocardiol,2015
3. Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome;Goldenberg;J Cardiovasc Electrophysiol,2006
4. Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death;Goldman;Sci Transl Med,2009
5. Non optical semi-conductor next generation sequencing of the main cardiac QT-interval duration genes in pooled DNA samples;Gómez;J Cardiovasc Transl Res,2014
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1. The Pathological Mechanisms of Hearing Loss Caused by KCNQ1 and KCNQ4 Variants;Biomedicines;2022-09-12
2. A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome;npj Genomic Medicine;2021-03-04
3. Late-onset severe long QT syndrome;Annals of Noninvasive Electrocardiology;2017-11-30
4. An elderly Jervell and Lange-Nielsen patient heterozygous compound for two new KCNQ1 mutations;American Journal of Medical Genetics Part A;2016-11-21
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