MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy

Morsy, Kim, and Jang et al. identify homozygous loss-of-function variants in MDGA2 in individuals with autosomal-recessive developmental and epileptic encephalopathy (DEE). Functional data demonstrate impaired MDGA2 trafficking and disrupted MDGA2-dependent synaptic regulation, supporting its role in human neurodevelopment and expanding the genetic landscape of DEE.