PNKP and neurodevelopmental disorder: Lindy et al. [15] and Taniguchi-Ikeda et al. [16] reported additional pathogenic variants: a homozygous splicing variant c.1293_1298+2dupCGCCAGGT and a homozygous missense variant c.1028C>T (p.Pro343Leu), further linking the altered function of PNKP to epilepsy and neurodevelopmental disorders.