[Clinical and genetic characteristics analysis of 18 children with infantile epileptic spasms syndrome associated with mitochondrial gene variants].

作者：Tianhao Wu, Rui Li, Zhenhua Pan, Z W Zhang, Jing Peng · 发表于：PubMed · 年份：2025 · DOI：10.3760/cma.j.cn112140-20250706-00587 · 研究领域：Metabolism and Genetic Disorders

s Mitochondrial gene variants in IESS mainly involve mitochondrial respiratory chain enzyme complexes and protein synthesis pathways, typically manifesting as drug-resistant epilepsy with poor prognosis. Elevated lactate levels combined with cerebral atrophy or basal ganglia lesions may aid diagnosis.