PNKP and microcephaly: Prior studies have documented its correlation with delayed brain development, epilepsy, and microcephaly in postnatal infants, as well as early-onset infantile epileptic encephalopathy.[5] In contrast, the variant c.1188 + 1G > A in PNKP is a splicing mutation that has not been previously reported in the literature regarding individuals affected by PNKP-related conditions.