| Item type |
文献 / Documents(1) |
| 公開日 |
2020-02-27 |
| アクセス権 |
|
|
アクセス権 |
open access |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| 出版社版DOI |
|
|
|
識別子タイプ |
DOI |
|
|
関連識別子 |
https://doi.org/10.1016/j.braindev.2019.07.005 |
|
|
言語 |
ja |
|
|
関連名称 |
10.1016/j.braindev.2019.07.005 |
| 出版タイプ |
|
|
出版タイプ |
AM |
|
出版タイプResource |
http://purl.org/coar/version/c_ab4af688f83e57aa |
| タイトル |
|
|
タイトル |
A 16q22.2-q23.1 deletion identified in a male infant with West syndrome |
|
言語 |
en |
| 著者 |
森, 達夫
郷司, 彩
トダ, ヨシヒロ
伊藤, 弘道
森, 健治
コウモト, トモヒロ
(橘)井本, 逸勢
香美, 祥二
|
| 抄録 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
In partial monosomy of the distal part of chromosome 16q, abnormal facial features, intellectual disability (ID), and feeding dysfunction are often reported. However, seizures are not typical and the majority of them were seizure-free. Here we present the case of a 16q22.2-q23.1 interstitial deletion identified in a male patient with severe ID, facial anomalies including forehead protrusions and flat nose bridge, patent ductus arteriosus, bilateral vocal cord atresia treated by tracheotomy, and West syndrome, which were developed 10 months after birth. Although phenobarbital, sodium valproate (VPA), and zonisamide were not effective as monotherapies or combination therapies, the patient's epileptic seizures and electroencephalogram anomalies disappeared following combined therapy with lamotrigine and VPA. Although WW Domain Containing Oxidoreductase (WWOX), which is known as a cause of autosomal recessive epileptic encephalopathy, was included within the 6.8-Mb deleted region which identified by targeted panel sequencing and validated by chromosomal microarray analysis, no pathogenic variants were detected in the other allele of WWOX. Therefore, it is possible that other genes within or outside of the long deleted region or their interactions may cause West syndrome in this patient. |
|
言語 |
en |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
16q |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Interstitial deletion |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Epilepsy |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
West syndrome |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Lamotrigine |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Sodium valproate |
| 書誌情報 |
en : Brain and Development
巻 41,
号 10,
p. 888-893,
発行日 2019-07-25
|
| 収録物ID |
|
|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
03877604 |
| 収録物ID |
|
|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA00111153 |
| 収録物ID |
|
|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA11521714 |
| 出版者 |
|
|
出版者 |
The Japanese Society of Child Neurology |
|
言語 |
en |
| 出版者 |
|
|
出版者 |
Elsevier |
|
言語 |
en |
| 権利情報 |
|
|
言語 |
en |
|
権利情報 |
© 2019. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/ |
| EID |
|
|
識別子 |
366958 |
|
識別子タイプ |
URI |
| 言語 |
|
|
言語 |
eng |
braindev_41_10_888.pdf (1.32 MB)
