Philip H. Iffland

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.

This study shows chronic alcohol exposure reduces GABAergic synapses and perineuronal nets on striatal fast-spiking interneurons, promoting increased ethanol consumption.

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.

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

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.

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.

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

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.