Table 1 Main clinical characteristics of the two groups of patients.
TSC1 patients | TSC2 patients | p value | |
|---|---|---|---|
Number of patients | 31(38,3%) | 50 (61.7%) | - |
Females | 16 (51.6%) | 29 (58%) | NS |
Average age (Standard dev) [Years] | 25.1 (16.9) | 27.1(18.6) | NS |
Age range [Years] | 2–60 | 2–71 | NS |
De Novo variants | 18 (58.1%) | 27 (54%) | NS |
Familial variants | 13 (41.9%) | 23 (46%) | NS |
Intragenic deletions | 15 (48.4%) | 30 (60%) | NS |
Intragenic duplications | 1 (3.2%) | 2 (3.3%) | NS |
Missense mutations | 3 (9.6%) | 5 (10%) | NS |
Nonsense mutations | 12 (38.7%) | 13(26%) | NS |
