Author

Hao-Peng Kan

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Open access Oct 2026

KIF1A c.773C > T impairs neural progenitor differentiation and axonal transport in association with dysregulated Wnt/β-catenin-BDNF signaling.

Pathogenic KIF1A variants are established cause neurodevelopmental and neurodegenerative disorders. However, the mechanisms by which they perturb early human neural development remains undefined. Here, we identified a heterozygous KIF1A c.773C > T (p.T258M) mutation in a Chinese family with hereditary spastic paraplegi...

Yong Liu, Jia-Yu Wang, Ruo-Nan Duan et al. · Neurobiology of Disease · 0 citations

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. · Zhonghua yi xue yi chuan xue... · 0 citations

Hao-Peng Kan

KIF1A c.773C > T impairs neural progenitor differentiation and axonal transport in association with dysregulated Wnt/β-catenin-BDNF signaling.

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

KIF1A c.773C > T impairs neural progenitor differentiation and axonal transport in association with dysregulated Wnt/β-catenin-BDNF signaling.