The Effects of NPRL3 Loss Described in New Study in Old Order Mennonite Population
Posted on March 14, 2022
STRASBURG, PA – A new study published in this month’s issue of Brain details the effects of the loss of gene products from NPRL3 on seizure threshold, cortical lamination, mTOR localization, and neuron structure. This study reports the largest and genealogically oldest known NPRL3 patient pedigree. The 12-generation, Old Order Mennonite pedigree dates back to a founder NPRL3 variant originating in a couple from 1727. The study was a collaborative effort led by clinicians and researchers from the Clinic for Special Children and the University of Maryland School of Medicine.