Identification of a novel homozygous <i>SLC13A5</i> nonstop mutation in a Chinese family with epileptic encephalopathy and developmental delay.

ABSTRACT:

Introduction

Biallelic 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 the Chinese population.

Methods

A Chinese Han pediatric patient with epilepsy and global developmental delay was described in this study. Trio-whole exome sequencing (WES) including the patient and her parents was performed to determine the genetic basis of the phenotype. Potential pathogenic variants were subsequently confirmed by Sanger sequencing. Additionally, we conducted an extensive review of the literature regarding SLC13A5 variants to analyze their ass

SUBMITTER: He H 

PROVIDER: S-EPMC12043571 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature