Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA

Recently, haploinsufficiency of PURA has been identified as an essential cause of 5q31.3 microdeletion syndrome, which is characterized by severe psychomotor developmental delay, epilepsy, distinctive features, and delayed myelination. A new 5q31.2-q31.3 microdeletion that included PURA was identifi...

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Detalles Bibliográficos
Autores principales: Shimojima, Keiko, Okamoto, Nobuhiko, Ohmura, Kayo, Nagase, Hiroaki, Yamamoto, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5874397/
https://www.ncbi.nlm.nih.gov/pubmed/29619234
http://dx.doi.org/10.1038/hgv.2018.7
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author Shimojima, Keiko
Okamoto, Nobuhiko
Ohmura, Kayo
Nagase, Hiroaki
Yamamoto, Toshiyuki
author_facet Shimojima, Keiko
Okamoto, Nobuhiko
Ohmura, Kayo
Nagase, Hiroaki
Yamamoto, Toshiyuki
author_sort Shimojima, Keiko
collection PubMed
description Recently, haploinsufficiency of PURA has been identified as an essential cause of 5q31.3 microdeletion syndrome, which is characterized by severe psychomotor developmental delay, epilepsy, distinctive features, and delayed myelination. A new 5q31.2-q31.3 microdeletion that included PURA was identified in a patient with infantile spasms. Approximately 50% of patients with PURA-related neurodevelopmental disorders exhibited epilepsy regardless of whether they harbor a 5q31.3 deletion or PURA mutation. Patients with the 5q31.3 deletion or a PURA mutation should be carefully monitored for epileptic seizures.
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spelling pubmed-58743972018-04-04 Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA Shimojima, Keiko Okamoto, Nobuhiko Ohmura, Kayo Nagase, Hiroaki Yamamoto, Toshiyuki Hum Genome Var Data Report Recently, haploinsufficiency of PURA has been identified as an essential cause of 5q31.3 microdeletion syndrome, which is characterized by severe psychomotor developmental delay, epilepsy, distinctive features, and delayed myelination. A new 5q31.2-q31.3 microdeletion that included PURA was identified in a patient with infantile spasms. Approximately 50% of patients with PURA-related neurodevelopmental disorders exhibited epilepsy regardless of whether they harbor a 5q31.3 deletion or PURA mutation. Patients with the 5q31.3 deletion or a PURA mutation should be carefully monitored for epileptic seizures. Nature Publishing Group 2018-03-29 /pmc/articles/PMC5874397/ /pubmed/29619234 http://dx.doi.org/10.1038/hgv.2018.7 Text en Copyright © 2018 The Author(s) http://creativecommons.org/licenses/by-nc-sa/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/
spellingShingle Data Report
Shimojima, Keiko
Okamoto, Nobuhiko
Ohmura, Kayo
Nagase, Hiroaki
Yamamoto, Toshiyuki
Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA
title Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA
title_full Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA
title_fullStr Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA
title_full_unstemmed Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA
title_short Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA
title_sort infantile spasms related to a 5q31.2-q31.3 microdeletion including pura
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5874397/
https://www.ncbi.nlm.nih.gov/pubmed/29619234
http://dx.doi.org/10.1038/hgv.2018.7
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