Nishikawa, M., Uchiyama, Y., Nakamura, K., Kato, M., Yamada, K., Torii, S., Kanda, T., Yamashita, T., Horigane, S., Takemoto-Kimura, S., Takeuchi, R., Osakada, F., Kodama, T., Hiroaki, H., Ito, H., Ueda, H., Nagata, K., Matsumoto, N., Kinoshita, M. (2026). A hypofunctional PREX1 variant (p.Y191C) leads to neurodevelopmental abnormalities and epilepsy by attenuating RAC1 signaling. Scientific Reports. https://doi.org/10.1038/s41598-026-60407-y