ID | 118474 |
著者 |
Sakamoto, Masamune
Yokohama City University
田山, 貴広
Tokushima University
郷司, 彩
Tokushima University
Toda, Yoshihiro
Tokushima University
Fujita, Atsushi
Yokohama City University
Mizuguchi, Takeshi
Yokohama City University
Matsumoto, Naomichi
Yokohama City University
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キーワード | Epilepsy with myoclonic atonic seizures (EMAtS)
SLC6A1
Balanced chromosomal translocation
Long-read sequencing
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資料タイプ |
学術雑誌論文
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抄録 | Introduction
Epilepsy with myoclonic atonic seizures (EMAtS) was previously thought to occur in normally developing children. We report a female case of EMAtS and mild developmental delay before onset. Importantly, a de novo balanced chromosomal translocation was recognized in the patient. Case presentation The patient was a 4-year-old girl. Mild developmental delay was observed during infancy. At the age of one and a half years, she developed atonic seizures once a month. At 4 years of age, her seizures increased to more than 10 times per hour. An ictal electroencephalogram (EEG) showed a 3–4-Hz spike-and-wave complex, which was consistent with atonic and myoclonic seizures of the trunk, eyelids, and lips. Therefore, EMAtS was diagnosed based on the symptoms and EEG findings. After administration of valproic acid (VPA), the epileptic seizures disappeared immediately. At the age of 5 years and 2 months, the seizures recurred but disappeared again when the dose of VPA was increased. Subsequently, no recurrence was observed until 6 years and 3 months of age on VPA and lamotrigine. Chromosome analysis of the patient disclosed 46,XX,t(3;11)(p25;q13.1)dn. Long-read sequencing of the the patient’s genomic DNA revealed that the 3p25.3 translocation breakpoint disrupted the intron 7 of the SLC6A1 gene. Conclusion The SLC6A1 disruption by chromosome translocation well explains the clinical features of this patient. Long-read sequencing is a powerful technique to determine genomic abnormality at the nucleotide level for disease-associated chromosomal abnormality. |
掲載誌名 |
Brain and Development
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ISSN | 03877604
18727131
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cat書誌ID | AA00111153
AA11521714
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出版者 | The Japanese Society of Child Neurology|Elsevier
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巻 | 45
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号 | 7
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開始ページ | 395
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終了ページ | 400
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発行日 | 2023-03-23
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権利情報 | © 2023. This manuscript version is made available under the CC-BY-NC-ND 4.0 license https://creativecommons.org/licenses/by-nc-nd/4.0/
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EDB ID | |
出版社版DOI | |
出版社版URL | |
フルテキストファイル | |
言語 |
eng
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著者版フラグ |
著者版
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部局 |
病院
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