In addition to epilepsy, he had shown phenotypic polyneuropathy from the age of 13, which is why a genetic investigation was initiated involving his parents and sisters, in which the variants c.695G>A in exon 3 and c.2209G>C in exon 13 of the POLG gene were detected in all three siblings (Figure 1). The gene discussed is POLG; the disease is polyneuropathy.