K. Zaafrane-Khachnaoui

Pathogenic NLGN4X variants reveal dual roles in synaptic connectivity and cortical development

Neuroligins are synaptic adhesion molecules important for neurodevelopment, and rare, highly penetrant variants underlie neurodevelopmental disorders (NDDs). Here, we characterize a rare missense variant NLGN4X G243R identified in a pedigree with NDDs and associated with severe protein trafficking deficits. NLGN4X G2...