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ID 114240
著者
Toda, Yoshihiro Tokushima University
伊藤, 弘道 Tokushima University|Naruto University of Education KAKEN研究者をさがす
Kohmoto, Tomohiro Tokushima University|Aichi Cancer Center Research Institute
井本, 逸勢 Tokushima University|Aichi Cancer Center Research Institute|Nagoya University 徳島大学 教育研究者総覧 KAKEN研究者をさがす
キーワード
16q
Interstitial deletion
Epilepsy
West syndrome
Lamotrigine
Sodium valproate
資料タイプ
学術雑誌論文
抄録
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.
掲載誌名
Brain and Development
ISSN
03877604
cat書誌ID
AA00111153
AA11521714
出版者
The Japanese Society of Child Neurology|Elsevier
41
10
開始ページ
888
終了ページ
893
発行日
2019-07-25
備考
論文本文は2020-07-25以降公開予定
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/
EDB ID
出版社版DOI
出版社版URL
言語
eng
著者版フラグ
その他
部局
病院
医学系