Brugada syndrome and calcium channel mutation in a patient with congenital deaf mutism

To the best of our knowledge, for the first time in the literature, we described a congenitally deaf-mute patient with Brugada syndrome (BrS) in whom a mutation in L-type Ca(+2) channel [CACNA1C (Ca(v)1.2α1)] was identified.

Detalles Bibliográficos
Autores principales: Canpolat, Uğur, Coteli, Cem, Aytemir, Kudret
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5357834/
https://www.ncbi.nlm.nih.gov/pubmed/28401855
http://dx.doi.org/10.1016/j.ipej.2017.01.002
_version_ 1782516114885967872
author Canpolat, Uğur
Coteli, Cem
Aytemir, Kudret
author_facet Canpolat, Uğur
Coteli, Cem
Aytemir, Kudret
author_sort Canpolat, Uğur
collection PubMed
description To the best of our knowledge, for the first time in the literature, we described a congenitally deaf-mute patient with Brugada syndrome (BrS) in whom a mutation in L-type Ca(+2) channel [CACNA1C (Ca(v)1.2α1)] was identified.
format Online
Article
Text
id pubmed-5357834
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher Elsevier
record_format MEDLINE/PubMed
spelling pubmed-53578342017-03-27 Brugada syndrome and calcium channel mutation in a patient with congenital deaf mutism Canpolat, Uğur Coteli, Cem Aytemir, Kudret Indian Pacing Electrophysiol J Case Report To the best of our knowledge, for the first time in the literature, we described a congenitally deaf-mute patient with Brugada syndrome (BrS) in whom a mutation in L-type Ca(+2) channel [CACNA1C (Ca(v)1.2α1)] was identified. Elsevier 2017-01-09 /pmc/articles/PMC5357834/ /pubmed/28401855 http://dx.doi.org/10.1016/j.ipej.2017.01.002 Text en © 2017, Indian Heart Rhythm Society. Production and hosting by Elsevier B.V. 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 Case Report
Canpolat, Uğur
Coteli, Cem
Aytemir, Kudret
Brugada syndrome and calcium channel mutation in a patient with congenital deaf mutism
title Brugada syndrome and calcium channel mutation in a patient with congenital deaf mutism
title_full Brugada syndrome and calcium channel mutation in a patient with congenital deaf mutism
title_fullStr Brugada syndrome and calcium channel mutation in a patient with congenital deaf mutism
title_full_unstemmed Brugada syndrome and calcium channel mutation in a patient with congenital deaf mutism
title_short Brugada syndrome and calcium channel mutation in a patient with congenital deaf mutism
title_sort brugada syndrome and calcium channel mutation in a patient with congenital deaf mutism
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5357834/
https://www.ncbi.nlm.nih.gov/pubmed/28401855
http://dx.doi.org/10.1016/j.ipej.2017.01.002
work_keys_str_mv AT canpolatugur brugadasyndromeandcalciumchannelmutationinapatientwithcongenitaldeafmutism
AT cotelicem brugadasyndromeandcalciumchannelmutationinapatientwithcongenitaldeafmutism
AT aytemirkudret brugadasyndromeandcalciumchannelmutationinapatientwithcongenitaldeafmutism

Ejemplares similares