Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant

Variants of GRIN1, which encodes GluN1, are associated with developmental delay, epilepsy, and cortical malformation. Here, we report a case of arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a heterozygous variant, c.1949A>C, p.(Asn650Thr) of GRIN1,...

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Autores principales: Nishimura, Naoto, Kumaki, Tatsuro, Murakami, Hiroaki, Enomoto, Yumi, Katsumata, Kaoru, Toyoshima, Katsuaki, Kurosawa, Kenji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7519642/
https://www.ncbi.nlm.nih.gov/pubmed/33062288
http://dx.doi.org/10.1038/s41439-020-00116-8
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author Nishimura, Naoto
Kumaki, Tatsuro
Murakami, Hiroaki
Enomoto, Yumi
Katsumata, Kaoru
Toyoshima, Katsuaki
Kurosawa, Kenji
author_facet Nishimura, Naoto
Kumaki, Tatsuro
Murakami, Hiroaki
Enomoto, Yumi
Katsumata, Kaoru
Toyoshima, Katsuaki
Kurosawa, Kenji
author_sort Nishimura, Naoto
collection PubMed
description Variants of GRIN1, which encodes GluN1, are associated with developmental delay, epilepsy, and cortical malformation. Here, we report a case of arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a heterozygous variant, c.1949A>C, p.(Asn650Thr) of GRIN1, which could result in the disruption of the third transmembrane domain (M3) of GluN1. This case expands our understanding of the known phenotypes of GRIN1-related neurodevelopmental disorders.
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spelling pubmed-75196422020-10-14 Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant Nishimura, Naoto Kumaki, Tatsuro Murakami, Hiroaki Enomoto, Yumi Katsumata, Kaoru Toyoshima, Katsuaki Kurosawa, Kenji Hum Genome Var Data Report Variants of GRIN1, which encodes GluN1, are associated with developmental delay, epilepsy, and cortical malformation. Here, we report a case of arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a heterozygous variant, c.1949A>C, p.(Asn650Thr) of GRIN1, which could result in the disruption of the third transmembrane domain (M3) of GluN1. This case expands our understanding of the known phenotypes of GRIN1-related neurodevelopmental disorders. Nature Publishing Group UK 2020-09-25 /pmc/articles/PMC7519642/ /pubmed/33062288 http://dx.doi.org/10.1038/s41439-020-00116-8 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Nishimura, Naoto
Kumaki, Tatsuro
Murakami, Hiroaki
Enomoto, Yumi
Katsumata, Kaoru
Toyoshima, Katsuaki
Kurosawa, Kenji
Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant
title Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant
title_full Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant
title_fullStr Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant
title_full_unstemmed Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant
title_short Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant
title_sort arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel grin1 variant
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7519642/
https://www.ncbi.nlm.nih.gov/pubmed/33062288
http://dx.doi.org/10.1038/s41439-020-00116-8
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