In addition, mutations in the following genes were found in single subjects: ACTL6B, ALDH7A1, ALG13, CACNA1A, CHD2, DEPDC5, EEF1A2, GABRG2, GRIN2A, HECW2, KCNQ3, NOVA2, PIGT, SCN8A, SLC2A1, SLC35A2, SLC6A8, SYNGAP1, TBCE, TBL1XR1, TSC1, and WDR45. Three pathogenic CNVs were detected: del15q11.2-q12 (Angelman syndrome), del(2)(q24.3) encompassing four epilepsy-associated genes (SCN1A, SCN2A, SCN3A, SCN9A) and a mosaic deletion c.(1527 + 1_1528–1)_(*1_)? The gene discussed is TBL1XR1; the disease is Angelman syndrome.