A case report and literature review of developmental epileptic encephalopathy caused by CACNA1E gene mutation
10.3760/cma.j.cn431274-20231106-00512
- VernacularTitle:CACNA1E基因变异致发育性癫痫性脑病一例报告并文献复习
- Author:
Chunmei LIU
1
;
Taomei FU
;
Man ZHANG
;
Wei HU
;
Jianwu ZENG
Author Information
1. 湘潭市妇幼保健院儿科，湘潭 411100
- Keywords:
Mutation;
CACNA1E gene;
Developmental epileptic encephalopathy
- From:
Journal of Chinese Physician
2023;25(12):1785-1788
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To report a case of developmental epileptic encephalopathy caused by CACNA1E gene mutation and explore C Clinical phenotype and prognosis of 2069G>A (p.Gly690Asp) locus.Methods:The clinical data and follow-up of a case of developmental epilepsy related to CACNA1E gene mutation admitted to the Maternity And Children Health Hospital of Xiangtan City in September 2020 were summarized and analyzed.Results:The male patient, with delayed intellectual and motor development, sought medical attention and gradually developed seizures. The genetic results showed that the CACNA1E gene c. 2069G>A (p.Gly690Asp) was a newly discovered variant, and the parental site was a wild-type. Based on clinical manifestations, the diagnosis was a pathogenic variant.Conclusions:Developmental epileptic encephalopathy caused by mutations in the CACNA1E gene can have intellectual and motor impairments as the initial manifestation; Site C 2069G>A (p.Gly690Asp) presents with severe epilepsy and poor prognosis, with the possibility of brain atrophy. The combination of valproic acid and clonazepam may be effective in treating epilepsy.
