PNKP and infection: A cohort study of 680 cases revealed that genetic factors accounted for approximately 50% of cases, whereas perinatal brain injury, including infections and teratogenic exposures, accounted for approximately 48%.[6] Specific gene mutations, such as PNKP, PIK3R1,[7] PPP5C,[8] INPP4A,[9] HMGB1,[10] NUSAP1,[11] and CHKA,[12] are associated with this condition.