Novel IARS1 variants cause syndromic developmental disorder with epilepsy in a Chinese patient and the literature review

ConclusionThis study identified novelIARS1 variants and the phenotype of developmental regression, expanding the spectrum of pathogenic variants and phenotypes ofIARS1-related diseases and providing new evidence for the rare phenotype of epileptic seizures caused byIARS1 variants.

Source: Molecular Genetics & Genomic Medicine - November 28, 2023 Category: Genetics & Stem Cells Authors: Jinsong Jiang, Yu Feng, Qiaoyin Tang, Chenyue Zhao, Min Guo, Jianrui Wu, Rong Guo, Hongyong Lu, Xiayu Sun, Jingbo Gao, Huiqin Xue Tags: ORIGINAL ARTICLE Source Type: research