Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features

By integrating clinical phenotyping, association studies, molecular functional studies, and Drosophila modeling, the authors demonstrate that de novo variants in the RNA-binding protein ELAVL2 cause a neurodevelopmental disorder through haploinsufficiency and reveal essential roles for ELAVL2 in neuronal function, cognition, and behavior.