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ID 116186
Title Alternative
ARID1B deletion in intractable epilepsy
Author
Toda, Yoshihiro Tokushima University
Ito, Hiromichi Tokushima University| Naruto University of Education KAKEN Search Researchers
Fujita, Atsushi Yokohama City University
Matsumoto, Naomichi Yokohama City University
Keywords
Epilepsy
Coffin-Siris syndrome
ARID1B
partial gene deletion
sodium valproate
Content Type
Journal Article
Description
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.
Journal Title
Epilepsy & Seizure
ISSN
18825567
Publisher
Japan Epilepsy Society
Volume
13
Issue
1
Start Page
45
End Page
50
Published Date
2021
EDB ID
DOI (Published Version)
URL ( Publisher's Version )
FullText File
language
eng
TextVersion
Publisher
departments
University Hospital
Medical Sciences