[Developmental and epileptic encephalopathy 33 caused by EEF1A2 gene mutation: a case report]. / EEF1A2åºå åå¼è´åè²æ§ç«ç«æ§èç
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Zhongguo Dang Dai Er Ke Za Zhi
; 26(8): 861-864, 2024 Aug 15.
Article
em Zh
| MEDLINE
| ID: mdl-39148392
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Deficiências do Desenvolvimento
/
Fator 1 de Elongação de Peptídeos
Limite:
Humans
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Infant
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Male
Idioma:
Zh
Revista:
Zhongguo Dang Dai Er Ke Za Zhi
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
China
País de publicação:
China