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Ai-Hua Zhang

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Open access Jan 2026

Genotype–Phenotype Correlations and Their Implications for Personalized Genetic Counseling in 103 Patients With PRRT2 Mutations

Objective PRRT2 mutations are associated with a wide spectrum of paroxysmal neurologic disorders. In this study, we analyze clinical and genetic data from a large pediatric cohort to define genotype–phenotype correlations and to provide a basis for individualized genetic counseling. Methods This retrospective study inc...

Shang-Yu Wang, Xiao Min, Ge-Ge Yuan et al. · 0 citations

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