[由 EEF1A2 基因突变引起的发育性和癫痫性脑病 33:病例报告]。

Hai-Lan He, Xue-Qin Lin, Xiao-Le Wang, Pan Peng, Hui Xiao, Fei Yin, Jing Peng
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引用次数: 0

摘要

一名 7 个月大的男童患有严重的全面发育迟缓(GDD)、难治性癫痫、肌张力低下、眼球震颤、眼球突出、宽鼻梁、上唇外翻、高腭弓和隐睾。基因检测显示,该男孩的EEF1A2基因存在c.364G>A(p.E122K)的新发杂合错义突变,最终被诊断为EEF1A2基因突变导致的常染色体显性发育和癫痫性脑病33。本病例报告提示,对于不明原因的婴儿期发病的重度至深度 GDD/智力障碍和难治性癫痫患儿,应考虑进行 EEF1A2 基因突变的基因检测。这对于那些表现为肌张力低下、无语言交流能力和颅面畸形的患儿尤为重要,有助于确诊。
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[Developmental and epileptic encephalopathy 33 caused by EEF1A2 gene mutation: a case report].

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.

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来源期刊
中国当代儿科杂志
中国当代儿科杂志 Medicine-Pediatrics, Perinatology and Child Health
CiteScore
1.50
自引率
0.00%
发文量
5006
期刊介绍: The Chinese Journal of Contemporary Pediatrics (CJCP) is a peer-reviewed open access periodical in the field of pediatrics that is sponsored by the Central South University/Xiangya Hospital of Central South University and under the auspices of the Ministry of Education of China. It is cited as a source in the scientific and technological papers of Chinese journals, the Chinese Science Citation Database (CSCD), and is one of the core Chinese periodicals in the Peking University Library. CJCP has been indexed by MEDLINE/PubMed/PMC of the American National Library, American Chemical Abstracts (CA), Holland Medical Abstracts (EM), Western Pacific Region Index Medicus (WPRIM), Scopus and EBSCO. It is a monthly periodical published on the 15th of every month, and is distributed both at home and overseas. The Chinese series publication number is CN 43-1301/R;ISSN 1008-8830. The tenet of CJCP is to “reflect the latest advances and be open to the world”. The periodical reports the most recent advances in the contemporary pediatric field. The majority of the readership is pediatric doctors and researchers.
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