NeuroscienceBrainPeer-reviewed
NPRL3: Direct Effects on Human Phenotypic Variability, mTOR Signaling, Subcellular mTOR Localization, Cortical Lamination, and Seizure Susceptibility
Philip H. Iffland, Mariah E. Everett, Katherine Cobb-Pitstick…·Peter B. Crino
The paper investigates NPRL3 variants' effects on mTOR signaling, cortical development, and epilepsy by using CRISPR/Cas9 knockout in cell lines and mice, showing mTOR hyperactivation and cortical dyslamination.