Many mutations in codons that involved the MTS “domain” of PNKP are related to infantile epileptic encephalopathy and other undefined conditions (PNKP[gene] - ClinVar - NCBI, 2018), and could be hypothesize that the etiology of the disease is linked to the inability of PNKP to translocate to neuronal mitochondria, or its failure to repair errors generated in the mtDNA. The gene discussed is PNKP; the disease is Epileptic encephalopathy.