A groundbreaking study reveals that pathogenic variants in the UNC13A gene cause a spectrum of neurodevelopmental disorders. The research demonstrates how different mutations disrupt synaptic function through distinct mechanisms, affecting neurotransmitter release and neuronal communication.
Breakthrough Discovery in Neurodevelopmental Disorders
Scientists have identified a new neurodevelopmental syndrome caused by mutations in the UNC13A gene, according to a recent study published in Nature Genetics. The research, involving 48 patients from multiple clinical centers, reveals how different variants in this crucial synaptic protein lead to a spectrum of neurological symptoms through impaired synaptic transmission.