A novel mutation in the OAR domain of the ARX gene

Mutations in ARX gene should be considered in patients with mental disability or/and epilepsy. It is an X‐linked gene that has pleiotropic effects. Here, we report the case of a boy diagnosed with Ohtahara syndrome. We performed the molecular analysis of the gene and identified a new missense mutati...

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Autores principales: Tapie, Alejandra, Pi‐Denis, Natalia, Souto, Jorge, Vomero, Alejandra, Peluffo, Gabriel, Boidi, María, Ciganda, Martín, Curbelo, Nicolás, Raggio, Victor, Roche, Leda, Pastro, Lucía
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5290510/
https://www.ncbi.nlm.nih.gov/pubmed/28174645
http://dx.doi.org/10.1002/ccr3.769
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author Tapie, Alejandra
Pi‐Denis, Natalia
Souto, Jorge
Vomero, Alejandra
Peluffo, Gabriel
Boidi, María
Ciganda, Martín
Curbelo, Nicolás
Raggio, Victor
Roche, Leda
Pastro, Lucía
author_facet Tapie, Alejandra
Pi‐Denis, Natalia
Souto, Jorge
Vomero, Alejandra
Peluffo, Gabriel
Boidi, María
Ciganda, Martín
Curbelo, Nicolás
Raggio, Victor
Roche, Leda
Pastro, Lucía
author_sort Tapie, Alejandra
collection PubMed
description Mutations in ARX gene should be considered in patients with mental disability or/and epilepsy. It is an X‐linked gene that has pleiotropic effects. Here, we report the case of a boy diagnosed with Ohtahara syndrome. We performed the molecular analysis of the gene and identified a new missense mutation.
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spelling pubmed-52905102017-02-07 A novel mutation in the OAR domain of the ARX gene Tapie, Alejandra Pi‐Denis, Natalia Souto, Jorge Vomero, Alejandra Peluffo, Gabriel Boidi, María Ciganda, Martín Curbelo, Nicolás Raggio, Victor Roche, Leda Pastro, Lucía Clin Case Rep Case Reports Mutations in ARX gene should be considered in patients with mental disability or/and epilepsy. It is an X‐linked gene that has pleiotropic effects. Here, we report the case of a boy diagnosed with Ohtahara syndrome. We performed the molecular analysis of the gene and identified a new missense mutation. John Wiley and Sons Inc. 2017-01-23 /pmc/articles/PMC5290510/ /pubmed/28174645 http://dx.doi.org/10.1002/ccr3.769 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Tapie, Alejandra
Pi‐Denis, Natalia
Souto, Jorge
Vomero, Alejandra
Peluffo, Gabriel
Boidi, María
Ciganda, Martín
Curbelo, Nicolás
Raggio, Victor
Roche, Leda
Pastro, Lucía
A novel mutation in the OAR domain of the ARX gene
title A novel mutation in the OAR domain of the ARX gene
title_full A novel mutation in the OAR domain of the ARX gene
title_fullStr A novel mutation in the OAR domain of the ARX gene
title_full_unstemmed A novel mutation in the OAR domain of the ARX gene
title_short A novel mutation in the OAR domain of the ARX gene
title_sort novel mutation in the oar domain of the arx gene
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5290510/
https://www.ncbi.nlm.nih.gov/pubmed/28174645
http://dx.doi.org/10.1002/ccr3.769
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