AUTHOR=He Hua , Long Lijuan , Tang Manling , Xu Qiang , Duan Shengwu , Chen Ge , Zhao Yan , Wu Qiongfang , Chen Jia 

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

JOURNAL=Frontiers in Genetics

VOLUME=Volume 16 - 2025

YEAR=2025

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2025.1474390

DOI=10.3389/fgene.2025.1474390

ISSN=1664-8021