Work

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

Year: 2024

Type: article

Abstract: gene mutations should be considered. This is particularly important for those exhibiting hypotonia, nonverbal communication, and craniofacial deformities, to facilitate a confirmed diagnosis.

Source: PubMed

DOI: 10.7499/j.issn.1008-8830.2404013

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

Institutions: Central South University, Xiangya Hospital Central South University

Language: English

Topic: Epilepsy research and treatment

Subfield: Psychiatry and Mental health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W4401657604

FWCI:

Cites: 18

Cited by:

Related to: 10