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Yuan Gao

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Case report Aug 2026

[Analysis of KCNA2 gene variant in a Chinese pedigree affected with developmental and epileptic encephalopathy].

This study has diagnosed a case of developmental and epileptic encephalopathy 32 by WGS and enriched the mutational spectrum of the KCNA2 gene and provided guidance for preimplantation genetic testing and counseling for the pedigree.

Lulu Gao, Peiwen Xu, Jie Li et al. · 0 citations