Identification of a novel homozygous SLC13A5 nonstop mutation in a Chinese family with epileptic encephalopathy and developmental delay - He, Hua; Long, Lijuan; Tang, Manling; Xu, Qiang; Duan, Shengwu; Chen, Ge; Zhao, Yan; Wu, Qiongfang; Chen, Jia (Frontiers in Genetics, 2025)