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ID 116186
タイトル別表記
ARID1B deletion in intractable epilepsy
著者
Toda, Yoshihiro Tokushima University
伊藤, 弘道 Tokushima University| Naruto University of Education KAKEN研究者をさがす
Fujita, Atsushi Yokohama City University
Matsumoto, Naomichi Yokohama City University
キーワード
Epilepsy
Coffin-Siris syndrome
ARID1B
partial gene deletion
sodium valproate
資料タイプ
学術雑誌論文
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.
掲載誌名
Epilepsy & Seizure
ISSN
18825567
出版者
Japan Epilepsy Society
13
1
開始ページ
45
終了ページ
50
発行日
2021
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
著者版フラグ
出版社版
部局
病院
医学系