PNKP and epilepsy: Following a normal karyotype result (46,XX), NGS analysis with epilepsy gene panel identified two heterozygous PNKP variants, both previously reported in a European family in compound heterozygosity [3]: the frameshift variant p.Thr424GlyfsTer49, caused by a 17-nucleotide duplication c.1253_1269dupGGGTCGCCATCGACAAC in exon 14 (rs587784365), and a 15-nucleotide deletion c.1386+49_1387-33delCCTCCTCCCCTGACCCC in intron 15 (rs752902474).