ID | 114240 |
Author |
Mori, Tatsuo
Tokushima University
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Goji, Aya
Tokushima University
Toda, Yoshihiro
Tokushima University
Mori, Kenji
Tokushima University
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Kohmoto, Tomohiro
Tokushima University|Aichi Cancer Center Research Institute
Imoto, Issei
Tokushima University|Aichi Cancer Center Research Institute|Nagoya University
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Kagami, Shoji
Tokushima University
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Keywords | 16q
Interstitial deletion
Epilepsy
West syndrome
Lamotrigine
Sodium valproate
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Content Type |
Journal Article
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Description | 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.
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Journal Title |
Brain and Development
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ISSN | 03877604
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NCID | AA00111153
AA11521714
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Publisher | The Japanese Society of Child Neurology|Elsevier
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Volume | 41
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Issue | 10
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Start Page | 888
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End Page | 893
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Published Date | 2019-07-25
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Rights | © 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/
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EDB ID | |
DOI (Published Version) | |
URL ( Publisher's Version ) | |
FullText File | |
language |
eng
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TextVersion |
Author
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departments |
University Hospital
Medical Sciences
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