PACS2 and developmental and epileptic encephalopathy: In humans, individuals carrying a missense mutation in PACS2 are affected by developmental and epileptic encephalopathies (Developmental and Epileptic Encephalopathy 66, MIM #618067) with neonatal/early-infantile onset and associated with extra-neurological features including autism, cerebellar dysgenesis, and facial dysmorphism [117].