ID | 116186 |
タイトル別表記 | ARID1B deletion in intractable epilepsy
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著者 |
郷司, 彩
Tokushima University
Toda, Yoshihiro
Tokushima University
Fujita, Atsushi
Yokohama City University
Matsumoto, Naomichi
Yokohama City University
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キーワード | Epilepsy
Coffin-Siris syndrome
ARID1B
partial gene deletion
sodium valproate
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資料タイプ |
学術雑誌論文
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抄録 | Although epilepsy is a known complication in Coffin-Siris syndrome, its clinical symptoms and effective treatment methods have not been thoroughly investigated so far. Here, we present the case of a female with a 594-kb interstitial deletion at 6q25.3, involving partially ARID1B, with developmental delay, short stature, and intractable epilepsy. At 4 years of age, she developed epilepsy with clonic seizures in the right half of her body. Treatment with carbamazepine, levetiracetam, or topiramate was ineffective. The frequency of epileptic seizures gradually worsened. At the peak of her seizures, she had focal onset clonic seizures 3-4 times a month, and neck atonic seizures lasting for several seconds more than 10 times a day. After administration of sodium valproate, her epileptic seizures decreased to 0-1 times a year. In conclusion, gathering genetic information in Coffin-Siris syndrome allows improvement of epilepsy treatment and outcomes in these patients.
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掲載誌名 |
Epilepsy & Seizure
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ISSN | 18825567
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出版者 | Japan Epilepsy Society
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巻 | 13
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号 | 1
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開始ページ | 45
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終了ページ | 50
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発行日 | 2021
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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 |
出版社版
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部局 |
病院
医学系
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