<italic>EEF1A2</italic>基因变异致发育性癫痫性脑病33型1例

doi:10.7499/j.issn.1008-8830.2404013

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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.

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	HE Hai-Lan
	LIN Xue-Qin
	WANG Xiao-Le
	PENG Pan
	XIAO Hui
	YIN Fei
	PENG Jing

Key words： Global developmental delay Intellectual disability Epilepsy EEF1A2 gene Infant

Received: 03 April 2024

Corresponding Authors: ，E-mail： 171781197@qq.com E-mail: 171781197@qq.com

Cite this article:

HE Hai-Lan,LIN Xue-Qin,WANG Xiao-Le et al. Developmental and epileptic encephalopathy 33 caused by EEF1A2 gene mutation: a case report[J]. CJCP, 2024, 26(8): 861-864.

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http://www.zgddek.com/EN/10.7499/j.issn.1008-8830.2404013 OR http://www.zgddek.com/EN/Y2024/V26/I8/861

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