Table 5 Genotype-phenotype correlations (N = 23)

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

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

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