Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy

The cyclin-dependent kinase-like 5 gene (CDKL5) is recognized as one of the genes responsible for epileptic encephalopathy. We identified CDKL5 mutations in five Japanese patients (one male and four female) with epileptic encephalopathy. Although all mutations were of de novo origin, they were locat...

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Autores principales: Yamamoto, Toshiyuki, Shimojima, Keiko, Kimura, Nobusuke, Mogami, Yukiko, Usui, Daisuke, Takayama, Rumiko, Ikeda, Hiroko, Imai, Katsumi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785533/
https://www.ncbi.nlm.nih.gov/pubmed/27081548
http://dx.doi.org/10.1038/hgv.2015.42
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author Yamamoto, Toshiyuki
Shimojima, Keiko
Kimura, Nobusuke
Mogami, Yukiko
Usui, Daisuke
Takayama, Rumiko
Ikeda, Hiroko
Imai, Katsumi
author_facet Yamamoto, Toshiyuki
Shimojima, Keiko
Kimura, Nobusuke
Mogami, Yukiko
Usui, Daisuke
Takayama, Rumiko
Ikeda, Hiroko
Imai, Katsumi
author_sort Yamamoto, Toshiyuki
collection PubMed
description The cyclin-dependent kinase-like 5 gene (CDKL5) is recognized as one of the genes responsible for epileptic encephalopathy. We identified CDKL5 mutations in five Japanese patients (one male and four female) with epileptic encephalopathy. Although all mutations were of de novo origin, they were located in the same positions as previously reported pathogenic mutations. These recurrent occurrences of de novo mutations in the same loci may indicate hot spots of nucleotide alteration.
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spelling pubmed-47855332016-04-14 Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy Yamamoto, Toshiyuki Shimojima, Keiko Kimura, Nobusuke Mogami, Yukiko Usui, Daisuke Takayama, Rumiko Ikeda, Hiroko Imai, Katsumi Hum Genome Var Data Report The cyclin-dependent kinase-like 5 gene (CDKL5) is recognized as one of the genes responsible for epileptic encephalopathy. We identified CDKL5 mutations in five Japanese patients (one male and four female) with epileptic encephalopathy. Although all mutations were of de novo origin, they were located in the same positions as previously reported pathogenic mutations. These recurrent occurrences of de novo mutations in the same loci may indicate hot spots of nucleotide alteration. Nature Publishing Group 2015-11-05 /pmc/articles/PMC4785533/ /pubmed/27081548 http://dx.doi.org/10.1038/hgv.2015.42 Text en Copyright © 2015 Official journal of the Japan Society of Human Genetics 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
Yamamoto, Toshiyuki
Shimojima, Keiko
Kimura, Nobusuke
Mogami, Yukiko
Usui, Daisuke
Takayama, Rumiko
Ikeda, Hiroko
Imai, Katsumi
Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy
title Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy
title_full Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy
title_fullStr Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy
title_full_unstemmed Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy
title_short Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy
title_sort recurrent occurrences of cdkl5 mutations in patients with epileptic encephalopathy
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785533/
https://www.ncbi.nlm.nih.gov/pubmed/27081548
http://dx.doi.org/10.1038/hgv.2015.42
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