Peter B. Crino

STRADA Deficiency Impairs Cortical Interneuron Development in Humans and Mice

This study shows STRADA deficiency reduces cortical inhibitory interneurons and increases striatal interneurons in mice and a human PMSE brain, suggesting impaired interneuron migration contributes to the disorder.

mTOR pathway gene knockout results in mTOR-dependent cellular aggregation

This study shows that knocking out mTOR pathway genes leads to mTOR-dependent cellular aggregation in vitro, with proteomic changes in adhesion molecules and other proteins involved in cellular dynamics.

SLC35A2 loss of function variants affect glycomic signatures, neuronal fate, and network dynamics

This study investigates the functional impact of SLC35A2 loss of function variants on glycomic signatures, neuronal fate, and network dynamics using human induced pluripotent stem cell-derived neurons.

Loss of Slc35a2 alters development of the mouse cerebral cortex

This study shows that disrupting Slc35a2 in mouse cortical neurons causes altered neuronal migration and reduced seizure threshold, contributing to MOGHE-like features.

Rapid modeling of an ultra-rare epilepsy patient variant in mice by in utero prime editing

This paper describes a method to rapidly create mouse models of human epilepsy variants using in utero prime editing, enabling the study of seizures in a clinically relevant timeframe.

Mouse and cellular models of KPTN-related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes

The paper investigates KPTN-related disorder using mouse and human stem cell models, identifying mTOR pathway dysregulation as a key mechanism underlying cognitive and overgrowth phenotypes.

BK channel properties correlate with neurobehavioral severity in three KCNMA1-linked channelopathy mouse models

The paper evaluates three KCNMA1 variants in mice to correlate BK channel properties with neurobehavioral severity in PNKD3.

NPRL3: Direct Effects on Human Phenotypic Variability, mTOR Signaling, Subcellular mTOR Localization, Cortical Lamination, and Seizure Susceptibility

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.