| Parameter present | Parameter not present | p value* | ||||
---|---|---|---|---|---|---|---|
Genetic test available | TSC1 | TSC2 | Genetic test available | TSC1 | TSC2 | ||
n | n (%) | n (%) | n | n (%) | n (%) | ||
Positive family history | 5/12 | 1 (20.0) | 4 (80.0) | 14/23 | 5 (35.7) | 9 (64.3) | 1.000 |
Cortical tubers | 19/32 | 5 (26.3) | 14 (73.7) | 0/3 | 0 (0.0) | 0 (0.0) | †|
SEN | 18/29 | 3 (16.7) | 15 (83.3) | 3/6 | 3 (100.0) | 0 (0.0) | 0.015 |
SEGA | 5/8 | 0 (0.0) | 5 (100.0) | 16/27 | 6 (37.5) | 10 (62.5) | 0.262 |
Epilepsy | 17/30 | 5 (29.4) | 12 (70.6) | 4/5 | 1 (25.0) | 3 (75.0) | 1.000 |
Epilepsy type | Â | Â | Â | Â | Â | Â | 1.000 |
Focal | 11/20 | 3 (27.3) | 8 (72.7) | 0/15 | – | – |  |
Infantile spasms | 6/8 | 2 (33.3) | 4 (66.7) | 0/27 | – | – |  |
LGS | 0/2 | – | – | 0/33 | – | – |  |
No epilepsy | 4/5 | 1 (25.0) | 3 (75.0) | 0/30 | – | – |  |
Epilepsy surgery | 3/4 | 2 (66.7) | 1 (33.3) | 18/31 | 4 (22.2) | 14 (77.8) | 0.184 |
VNS | 1/1 | 0 (0.0) | 1 (100.0) | 20/34 | 6 (30.0) | 14 (70.0) | 1.000 |
Cardiac rhabdomyoma | 13/22 | 2 (15.4) | 11 (84.6) | 8/13 | 4 (50.0) | 4 (50.0) | 0.146 |
Renal AML | 10/15 | 2 (20.0) | 8 (80.0) | 11/20 | 4 (36.4) | 7 (63.6) | 0.635 |
Renal cysts | 11/17 | 0 (0.0) | 11 (100.0) | 10/18 | 6 (60.0) | 4 (40.0) | 0.004 |
Retinal hamartoma | 1/2 | 0 (0.0) | 1 (100.0) | 20/33 | 6 (30.0) | 14 (70.0) | 1.000 |
Cognitive performance | Â | Â | Â | Â | Â | Â | 1.000 |
Average cognitive abilities | 7/11 | 2 (28.6) | 5 (71.4) | 0/24 | – | – |  |
Below-average cognitive abilities | 8/11 | 2 (25.0) | 6 (75.0) | 0/24 | – | – |  |
Severe mental impairment | 6/11 | 2 (33.3) | 4 (66.7) | 0/24 | – | – |  |
Autism | 3/4 | 1 (33.3) | 2 (66.7) | 18/31 | 5 (27.8) | 13 (72.2) | 1.000 |
Everolimus | 4/6 | 0 (0.0) | 4 (100.0) | 17/29 | 6 (35.3) | 11 (64.7) | 0.281 |