A case report of neurodevelopmental disorder with seizures caused by de novoNBEA gene variation and review of literature
10.3760/cma.j.cn113694-20250207-00068
- VernacularTitle:新发 NBEA基因变异所致神经发育障碍伴癫痫发作1例并文献复习
- Author:
Huimin ZHAO
1
;
Cheng YE
;
Ying LI
;
Shufeng YU
;
Kaili SHI
Author Information
1. 广州市妇女儿童医疗中心神经内科，广州510623
- Publication Type:Journal Article
- Keywords:
Developmental disabilities;
Epilepsy;
NBEA gene;
Autism;
Case reports
- From:
Chinese Journal of Neurology
2025;58(10):1073-1079
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To discuss the clinical and genetic characteristics of neurodevelopmental disorder with or without early-onset generalized epilepsy (NEDEGE) caused by NBEA gene variation. Methods:The clinical and genetic records of a patient who was diagnosed with NEDEGE caused by NBEA gene variation at the Department of Neurology, Guangzhou Women and Children′s Medical Center in April 2024 were collected retrospectively. Using " NBEA or neurobeachin" "Autism spectrum disorders or ASD" "Epilepsy" "Neurodevelopmental disorders" as the keywords, relevant articles were searched at CNKI, Wanfang and PubMed databases from establishment of these databases to December 2024. Clinical and genetic features of NEDEGE were summarized in the combination of this case. Results:The proband, a 3 years old boy, was backward in development since childhood. He had autism spectrum disorder-like manifestations such as stereotyped behavior and poor eye contact. At the age of 2, he developed generalized seizures. The whole exome sequencing showed a de novo heterozygous variation of c.244CT(p.Gln82 *) in the NBEA gene (NM-001385012.1), and he was diagnosed with NEDEGE. A total of 10 articles (all in English) were retrieved, reporting 36 cases of NBEA gene related NEDEGE (including this case), 4 of whom coming from China. Twenty-four individuals suffered from mild to severe intellectual disability, and most were moderate.Twenty-eight patients had language delay, including 4 cases of complete loss of language function, and 24 patients had seizures, and 19 patients had autism or autima-like behavior problems. Conclusions:This case enriches the mutation spectrum of the NBEA gene, and the c.244CT is the first reported related variation in the Chinese population. The clinical symptoms of NEDEGE related to NBEA gene mutations are most pronounced in neurodevelopmental disorders, followed by seizures and autistic behavior.
