HNRNPU and developmental and epileptic encephalopathy, 54: Upon consultation with the precision medicine clinic, WES was performed, which revealed a missense mutation in the HNRNPU gene (c.2425-2A>G; rs1553281924), which was reported as pathogenic and is associated with HNRNPU-related neurodevelopmental disorder (HNRNPU-NDD) and developmental and epileptic encephalopathy-54 (DEE54).