To date, only biallelic mutations in PLAA gene have been implicated in a Mendelian disease characterized by an early lethal infantile epileptic encephalopathy associated with progressive microcephaly, spasticity, and brain anomalies (NDMSBA) [MIM:617527] (Falik Zaccai et al., 2017; Hall et al., 2017; Dai et al., 2019). This evidence concerns the gene PLAA and infantile epileptic encephalopathy.