QARS1 encodes glutaminyl-tRNA synthetase 1, which catalyzes the aminoacylation of tRNA with glutamine, a critical step in protein translation 1. QARS1 plays a crucial role in brain development 2 and functions as a component of the human multi-tRNA synthetase complex, where it associates with arginyl-tRNA synthetase 1 and ARS-interacting multifunctional proteins through leucine zipper motifs 3. Beyond canonical translation, QARS1 interacts with antiviral proteins and transcriptional regulators in response to interferon signaling 4. Pathogenic QARS1 variants cause progressive microcephaly with seizures and cerebral/cerebellar atrophy (MSCCA), characterized by a clinical pentad of microcephaly, cerebral atrophy, intractable early-onset epileptic encephalopathy, global developmental retardation, and severe muscle hypotonia 56. Most reported patients exhibit severe, drug-resistant neonatal-onset seizures 6; however, milder phenotypes with later-onset focal seizures or nonepileptic presentations have been documented, associated with preserved tRNA aminoacylation activity or reduced protein solubility 678. Additionally, QARS1 may influence breast cancer cell proliferation through amino acid metabolism 9. Early genetic diagnosis is essential for QARS1-related encephalopathy to enable personalized treatment strategies and genetic counseling 8.