Developmental and epileptic encephalopathy 33 caused by EEF1A2 gene mutation:a case report
10.7499/j.issn.1008-8830.2404013
- VernacularTitle:EEF1A2基因变异致发育性癫痫性脑病33型1例
- Author:
Hai-Lan HE
1
;
Xue-Qin LIN
;
Xiao-Le WANG
;
Pan PENG
;
Hui XIAO
;
Fei YIN
;
Jing PENG
Author Information
1. 中南大学湘雅医院儿童医学中心神经专科,湖南长沙 410008
- Keywords:
Global developmental delay;
Intellectual disability;
Epilepsy;
EEF1A2 gene;
Infant
- From:
Chinese Journal of Contemporary Pediatrics
2024;26(8):861-864
- CountryChina
- Language:Chinese
-
Abstract:
A boy,aged 7 months,presented with severe global developmental delay(GDD),refractory epilepsy,hypotonia,nystagmus,ocular hypertelorism,a broad nasal bridge,everted upper lip,a high palatal arch,and cryptorchidism.Genetic testing revealed a de novo heterozygous missense mutation of c.364G>A(p.E122K)in the EEF1A2 gene,and finally the boy was diagnosed with autosomal dominant developmental and epileptic encephalopathy 33 caused by the EEF1A2 gene mutation.This case report suggests that for children with unexplained infancy-onset severe to profound GDD/intellectual disability and refractory epilepsy,genetic testing for EEF1A2 gene mutations should be considered.This is particularly important for those exhibiting hypotonia,nonverbal communication,and craniofacial deformities,to facilitate a confirmed diagnosis.
