ESPE Abstracts

Poirier-Bienvenue syndrome (POBINDS) is rare neurodevelopmental syndrome, resulting from germline hereteozygous CSNKB2 pathogenic variants. Patients mainly presented with severe epilepsy, delayed psychomotor development and/or profound intellectual disability. More recently patients with CSNK2B pathogenic variants and mild intellectual disability (ID), without any history of epileptic symptoms were reported. Short stature is present in 66% of patients, due in...