Author

Mitsuhiro Kato

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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

Open access Jul 2026

Efficacy of fenfluramine in a pediatric epilepsy patient with a pathogenic SV2A variant: A case report.

It is proposed that FFA's effectiveness stems from its ability to address two core pathologies of SV2A deficiency: correction of the excitatory/inhibitory imbalance by restoring inhibitory tone through its serotonergic mechanism, and mitigation of neuroinflammation, thereby stabilizing the neuronal network.

Takayuki Mori, Hiroshi Terashima, Yu Kakimoto et al. · Epileptic disorders · 0 citations