15q11-q13 Duplication syndrome with intractable epilepsy: a case report and literature review
10.3760/cma.j.cn113694-20230308-00168
- VernacularTitle:15q11-q13重复综合征伴难治性癫痫1例并文献复习
- Author:
Yang CAI
1
;
Xiaoling WU
;
Shaoping ZHONG
;
Yuling YANG
;
Jing DING
;
Xin WANG
Author Information
1. 复旦大学附属中山医院神经内科，上海，200032
- Keywords:
Epilepsy;
Mental retardation;
15q11-q13 Duplication syndrome
- From:
Chinese Journal of Neurology
2023;56(11):1285-1290
- CountryChina
- Language:Chinese
-
Abstract:
15q11-q13 Duplication syndrome is a rare genetic disease of the nervous system, characterized by developmental retardation, intellectual impairments, hypotonia, autism, epilepsy and so on. This article reports a 33-year-old male patient, with the clinical manifestation of early-onset intractable epilepsy and mental retardation. The high-throughout whole exome sequencing showed a 10.53 Mb repeat sequence in the 15q11.2-q13.3 region, further confirming the diagnosis of 15q11-q13 duplication syndrome. The literature reports of the pathogenic mechanism, classification, typical clinical manifestation, seizure features,accessory examination and therapy of the 15q11-q13 duplication syndrome are summarized and reviewed, so as to enhance the understanding of the disease, as well as to improve the diagnosis and treatment level of the clinicians.
