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Guixiang Zhang

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Case report Open access Aug 2026

A case report of a novel de novo variant in PPP2CA causing a neurodevelopmental disorder and epilepsy

The findings support the pathogenicity of this variant and further expand the pathogenic variant spectrum of the PPP2CA gene, and the observed genotype–phenotype correlation provides valuable information for prognosis and genetic counseling.

Lei Xu, Yanfeng Shen, Guixiang Zhang · 0 citations