Case report: Surgical disconnection for medically refractory epilepsy in ARID1B-related Coffin-Siris syndrome.

Xiao-Lai Ye, Cui-Jing Wang, Min-Zhi Yin, Ru-En Yao, Ying Zhou, Fo-Yang Fan, Qin-Chuan Liang

Abstract readCase Reports

In one paragraph

Article in Epilepsy & behavior reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed

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1 citing paper in PubMed.

Focal cortical dysplasia: An under-recognized neuroimaging finding in ARID1B-related disorders.Epileptic disorders : international epilepsy journal with videotape · 2026
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5 · Who and what money

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7 authors.

Xiao-Lai YeDepartment of Functional Neurology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Cui-Jing WangDepartment of Functional Neurology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Min-Zhi YinDepartment of Pathology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Ru-En YaoDepartment of Hereditary, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Ying ZhouDepartment of Radiology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Fo-Yang FanDepartment of Neurology, Fujian Children's Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China.

Qin-Chuan LiangDepartment of Functional Neurology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Coffin-Siris syndrome is a rare multiple congenital anomaly syndrome. We report a case of medically refractory epilepsy developing in a pediatric patient with ARID1B-related Coffin-Siris syndrome, with pachygyria and polymicrogyria in right frontal lobe. Following presurgical evaluations, surgical disconnection of the epileptogenic zone was performed. Postoperative follow-up at 18 months demonstrated complete seizure freedom, with concomitant improvements in speech development and motor strength. This expands the phenotypes associated with ARID1B-related Coffin-Siris syndrome and underscores the importance of early genetic testing for DEEs, along with timely surgical evaluation and treatment for genetic epilepsies where applicable.

Indexed as

Coffin–Siris syndromeEpilepsySurgery

Identifiers

PMID40934062

DOI10.1016/j.ebr.2025.100825

PMCPMC12418886

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