Author

Yan Sun

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Sep 2026

Associations of SLCO gene polymorphisms with perampanel response and plasma concentrations in patients: a longitudinal retrospective real-world study in refractory epilepsy.

OBJECTIVE This study analyzed the correlation between SLCO gene polymorphisms and the efficacy and plasma concentrations of perampanel (PER) in pediatric patients with refractory epilepsy (RE). METHODS SLCO genotypes were detected using first-generation Sanger sequencing, and the plasma concentration of PER was measu...

Ting-Li Zhao, Hong-Jian Li, Hui-Lan Zhang et al. · Pharmacogenomics (London) · 0 citations

Aug 2026

Three FBN1 pathogenic variants in Chinese patients with Marfan syndrome: Two novel variants including a splicing-altering deletion with functional verification.

In this study, pathogenic FBN1 variants were identified in three patients, thereby confirming the clinical diagnosis of MFS and contributing two novel variants to the FBN1 variant repository, and provide a comparative assessment of genotype-phenotype correlations.

Xing Zhao, La-Mei Yuan, Yan Sun et al. · Clinica chimica acta; intern... · 0 citations