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[Analysis of a child with developmental disorder and epilepsy due to a homozygous variant of SLC25A12 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2024

Wei Shitao, Huang Xiaoli, Qin Luoxiao, Qin Mo, Zhou Yilan, Yu Bing, Yuan Dejian, Yi Rongsong, Tian Yang

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a child featuring global developmental delay and epilepsy. METHODS: A child who had presented at Guangzhou Women and Children's Medical Center Liuzhou Hospital on February 19, 2023 was selected as the study subject. Clinical data of the child was collected. The child was subjected to whole exome sequencing, and candidate variant was validated by Sanger sequencing and...

Topics

Humans
Female
Infant
Epilepsy
Homozygote
Developmental Disabilities
Mutation
Mitochondrial Membrane Transport Proteins
Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38946367
DOI: 10.3760/cma.j.cn511374-20230428-00252

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