Various types of TSC1 and TSC2 mutations were detected in 174/225 (77.3%) in definite TSC, 21/53 (39.6%) in possible TSC, and 4/5 in not-evaluated-well parents of probands (one case had a TSC2 variant of uncertain significance) (Table 3); with, as a whole, 199/283 (70.3%) of all enrolled patients and 178/260 (68.5%) probands (Table 4). Here, TSC1 is linked to tuberous sclerosis.