Abstract：
The SEPHS1 (Selenophosphate Synthetase 1) gene encodes a critical enzyme for synthesizing selenophosphate, the active donor of selenium (Se) necessary for selenoprotein biosynthesis. Selenoproteins are vital for antioxidant defense, thyroid hormone metabolism, and cellular homeostasis. Mutations in SEPHS1 gene, are associated with neurodevelopmental disorders with developmental delay, poor growth, hypotonia, and dysmorphic features. Due to Se\'s critical role in brain development and function, SEPHS1 gene has taken center stage in neurodevelopmental research. This review explores the structure and function of the SEPHS1 gene, its role in neurodevelopment, and the implications of its dysregulation for neurodevelopmental disorders. Therapeutic strategies, including Se supplementation, gene therapy, and targeted therapies, are discussed as potential interventions to address SEPHS1 associated neurodevelopmental dysfunction. The study\'s findings reveal how SEPHS1 mutations disrupt neurodevelopment, emphasizing the gene\'s intolerance to loss of function. Future research should focus on functional characterization of SEPHS1 variants, broader genetic screenings, and therapeutic developments.
摘要：
SEPHS1（硒磷酸盐合成酶1）基因编码合成硒磷酸盐的关键酶，硒蛋白生物合成所必需的硒（Se）的活性供体。硒蛋白对于抗氧化防御至关重要，甲状腺激素代谢，和细胞稳态。SEPHS1基因突变,与发育迟缓的神经发育障碍有关，增长不佳,低张力,和畸形特征。由于硒在大脑发育和功能中的关键作用，SEPHS1基因在神经发育研究中处于中心地位。本文综述了SEPHS1基因的结构和功能,它在神经发育中的作用，以及其失调对神经发育障碍的影响。治疗策略,包括硒补充，基因治疗,和靶向治疗，讨论了作为解决SEPHS1相关神经发育功能障碍的潜在干预措施。这项研究的发现揭示了SEPHS1突变如何破坏神经发育，强调基因对功能丧失的不容忍。未来的研究应该集中在SEPHS1变体的功能表征上，更广泛的基因筛查，和治疗发展。
