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Article

[Developmental and epileptic encephalopathy 33 caused by EEF1A2 gene mutation: a case report].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 15 Aug 2024

He Hai-Lan, Lin Xue-Qin, Wang Xiao-Le, Peng Pan, Xiao Hui, Yin Fei, Peng Jing

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39148392
DOI: 10.7499/j.issn.1008-8830.2404013
PMCID: PMC11334538

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