How an mTOR pathway gene causes epilepsy in a pedigree dating from 1727

Congratulations to Philip Iffland and the Peter Crino Lab –with help from PouLab grad student Andrea Romanowski among the collaborator team– for the publication of a massive piece of work just out in Brain, spanning the fields of human genetics, cell biology, genome editing, electrophysiology, and brain development to identify the gene (NPRL3) and mechanisms that cause epilepsy in affected patients.

NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination, and seizure thresholdBrain, 2022