Subsequently, the NGS epilepsy gene panel identified two heterozygous PNKP variants: a missense variant, c.148C>G (p.Gln50Glu) in exon 2 (rs756746191), previously classified as pathogenic [12] and a novel nonsense variant, c.742C>T (p.Gln248Ter) in exon 7, resulting in a premature stop codon (Table 1). The gene discussed is PNKP; the disease is epilepsy.