Author

Masashi Nishikawa

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Open access Jul 2026

A hypofunctional PREX1 variant (p.Y191C) leads to neurodevelopmental abnormalities and epilepsy by attenuating RAC1 signaling.

Results indicate that reduced PREX1-RAC1 signaling leads to mislocalization, dendritic overgrowth, and neuronal hyperexcitability, which may underlie epilepsy in the human case.

Masashi Nishikawa, Yuri Uchiyama, Kazuyuki Nakamura et al. · Scientific Reports · 0 citations