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Epilepsy in patients with long QT syndrome type 1: A Norwegian family
The congenital long QT syndrome (cLQTS) is an inherited cardiac disorder and is associated with sudden cardiac death. We describe a Norwegian family with mutations within the KCNQ1 gene causing cLQTS type 1 (LQT1) and epilepsy. The index patient had Jervell and Lange-Nielsen-syndrome (JLNS) with dea...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215028/ https://www.ncbi.nlm.nih.gov/pubmed/30406014 http://dx.doi.org/10.1016/j.ebcr.2018.09.006 |
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author | González, Alba Aurlien, Dag Haugaa, Kristina H. Taubøll, Erik |
author_facet | González, Alba Aurlien, Dag Haugaa, Kristina H. Taubøll, Erik |
author_sort | González, Alba |
collection | PubMed |
description | The congenital long QT syndrome (cLQTS) is an inherited cardiac disorder and is associated with sudden cardiac death. We describe a Norwegian family with mutations within the KCNQ1 gene causing cLQTS type 1 (LQT1) and epilepsy. The index patient had Jervell and Lange-Nielsen-syndrome (JLNS) with deafness and recurrent episodes of cardiac arrhythmia. The mother and the brother have Romano-Ward syndrome (RWS) with recurrent arrhythmias. Whereas the father has focal epilepsy and genetically verified LQT1, the sister has both focal epilepsy and RWS. Our findings are consistent with the notion that mutations in the KCNQ1 gene can cause epilepsy. |
format | Online Article Text |
id | pubmed-6215028 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-62150282018-11-07 Epilepsy in patients with long QT syndrome type 1: A Norwegian family González, Alba Aurlien, Dag Haugaa, Kristina H. Taubøll, Erik Epilepsy Behav Case Rep Article The congenital long QT syndrome (cLQTS) is an inherited cardiac disorder and is associated with sudden cardiac death. We describe a Norwegian family with mutations within the KCNQ1 gene causing cLQTS type 1 (LQT1) and epilepsy. The index patient had Jervell and Lange-Nielsen-syndrome (JLNS) with deafness and recurrent episodes of cardiac arrhythmia. The mother and the brother have Romano-Ward syndrome (RWS) with recurrent arrhythmias. Whereas the father has focal epilepsy and genetically verified LQT1, the sister has both focal epilepsy and RWS. Our findings are consistent with the notion that mutations in the KCNQ1 gene can cause epilepsy. Elsevier 2018-10-09 /pmc/articles/PMC6215028/ /pubmed/30406014 http://dx.doi.org/10.1016/j.ebcr.2018.09.006 Text en © 2018 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Article González, Alba Aurlien, Dag Haugaa, Kristina H. Taubøll, Erik Epilepsy in patients with long QT syndrome type 1: A Norwegian family |
title | Epilepsy in patients with long QT syndrome type 1: A Norwegian family |
title_full | Epilepsy in patients with long QT syndrome type 1: A Norwegian family |
title_fullStr | Epilepsy in patients with long QT syndrome type 1: A Norwegian family |
title_full_unstemmed | Epilepsy in patients with long QT syndrome type 1: A Norwegian family |
title_short | Epilepsy in patients with long QT syndrome type 1: A Norwegian family |
title_sort | epilepsy in patients with long qt syndrome type 1: a norwegian family |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215028/ https://www.ncbi.nlm.nih.gov/pubmed/30406014 http://dx.doi.org/10.1016/j.ebcr.2018.09.006 |
work_keys_str_mv | AT gonzalezalba epilepsyinpatientswithlongqtsyndrometype1anorwegianfamily AT aurliendag epilepsyinpatientswithlongqtsyndrometype1anorwegianfamily AT haugaakristinah epilepsyinpatientswithlongqtsyndrometype1anorwegianfamily AT taubøllerik epilepsyinpatientswithlongqtsyndrometype1anorwegianfamily |