Subsequently, whole-exome sequencing (WES) analysis of undiagnosed pediatric patients allowed for the identification of more cases of AGC1 deficiency, such as those reported by Pronicka et al. (2016) [13], Nashabat et al. (2019) [15] and Kose et al. (2021) [18] showing different homozygous missense pathogenic variants in SLC25A12 (c.1335C > A, p.Asn445Lys; c.1385C > T, p.Thr462Met; and, c.125G > C, p.Arg42Pro, respectively), presenting epileptic encephalopathy and global developmental delay. The gene discussed is SLC25A12; the disease is Epileptic encephalopathy.