Identification of a novel homozygous SLC13A5 nonstop mutation in a Chinese family with epileptic encephalopathy and developmental delay

Identification of a novel homozygous SLC13A5 nonstop mutation in a Chinese family with epileptic encephalopathy and developmental delay

IntroductionBiallelic loss-of-function variants in the SLC13A5 (solute carrier family 13, member 5) gene are responsible for autosomal recessive developmental and epileptic encephalopathy 25 with amelogenesis imperfecta (DEE25). Until now, no pathogenic variants of SLC13A5 has been reported among th...

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Main Authors: Hua He, Lijuan Long, Manling Tang, Qiang Xu, Shengwu Duan, Ge Chen, Yan Zhao, Qiongfang Wu, Jia Chen
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-04-01
Series:Frontiers in Genetics
Subjects:
developmental and epileptic encephalopathy
SLC13A5
whole exome sequencing
homozygous
nonstop mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1474390/full
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https://www.frontiersin.org/articles/10.3389/fgene.2025.1474390/full

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