Author

Hua Li

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Review Aug 2026

Novel splice site variants in GBA1 are associated with Gaucher disease and genotype-phenotype correlations.

This study identified compound heterozygous GBA1 variants, including two novel candidate pathogenic splice site variants, in Gaucher disease type 3 patients, expanding the known mutational spectrum.

Yang-Mei Ou, Ming-Feng He, Fu-Jiang Yan et al. · Brain & development (Tokyo.... · 0 citations

Open access Jul 2026

Complete lesion resection and early surgical intervention are favorable factors for long‐term seizure freedom in drug‐resistant epileptic spasms

The findings suggest that referring children for surgery sooner rather than later can meaningfully improve their chances of living seizure‐free and underscore the importance of achieving complete lesion removal to optimize postoperative seizure control.

Hua Li, Yao Wang, Qiang Guo et al. · Epilepsia Open · 0 citations