Here, we focused on delineating the molecular and cellular consequences of the HNRNPU locus deficiency in a model of human early hindbrain development using induced pluripotent stem cells (iPSCs) from an individual with HNRNPU-related disorder and a knockdown isogenic cell approach for comparative analyses, and providing evidence of a broad spectrum of affected pathways. The gene discussed is HNRNPU; the disease is developmental and epileptic encephalopathy, 54.