Specific attention was paid during WES to early infantile epileptic encephalopathy (EIEE) related genes (AARS, ALG13, ARHGEF9, ARV1, ARX, CACNA1A, CDKL5, DNM1, DOCK7, EEF1A2, FRRS1L, GABRA1, GABRB3, GNAO1, GRIN2B, GUF1, HCN1, ITPA, KCNA2, KCNB1, KCNQ2, KCNT1, NECAP1, PCDH19, PIGA, PLCB1, PNKP, SCN1A, SCN2A, SCN8A, SCN9A, SLC12A5, SLC13A5, SLC1A2, SLC25A12, SLC25A22, SLC35A2, SPTAN1, ST3GAL3, STXBP1, SZT2, TBC1D24, WWOX, AP3B2, KCNT2, HNRNPU, CAD, UBA5, FGF12, GABRB1, MDH2, YWHAG, DENND5A, SCN1B, GRIN2D, SYNJ1, SIK1), to TSC1 and TSC2 and to IKBKG-related disorder. Here, ITPA is linked to infantile epileptic encephalopathy.