EPN2

The protein participates in clathrin-mediated endocytosis by interacting with clathrin and adaptor proteins, localizing to the peri-Golgi region and cell periphery. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, refractory seizures, and progressive microcephaly. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.397), consistent with its recessive inheritance pattern.