Table 1 Clinical summaries of 22 investigated FAME families

From: Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Family

Nationality

Total affected

Mean onset [range]

Myoclonus/CT

TCS

Focal Sz

References

1

Australian/New Zealand of European ancestry

55

18.6 y [4–59,60 y]

55/55 (100%)

8/55 (15%)

2/55 (4%)

2

2

Italian

2

15–25 y

2/2 (100%)

2/2 (100%)

0/2 (0%)

 

3

Italian

4

2–18y

4/4 (100%)

4/4 (100%)

2/4 (50%)

12

4

Italian

11

22.3 y [12–49,50 y]

11/11 (100%)

11/11 (100%)

3/11 (27%)

4, 17

5

Italian

25

26.6 y [5–39,40 y]

25/25 (100%)

10/25 (40%)

0/25 (0%)

38

6

Italian

12 (3 studied)

12 y [8–17,18 y]

11/12 (91.6%)

6/12 (50%)

1/12 (8.3%)

9, 39

7

Italian

4

22.75 y [10–35,36 y]

4/4 (100%)

3/4 (75%)

0/4 (0%)

 

8

Italian

10 (6 studied)

18.5 y [17–19,20 y]

6/6 (100%)

4/6 (66.6%)

0/6 (0%)

40

9

Italian

13 (11 studied)

17 y [12–21,22 y]

11/11 (100%)

9/11 (81.1%)

0/14 (0%)

41

10

Italian

16 (14 studied)

15.8 y [13–19,20 y]

14/14 (100%)

10/14 (71%)

0/14 (0%)

41

11

Italian

10 (5 studied)

15.5 y [13–17,18 y]

5/5 (100%)

4/5 (80%)

0/5 (0%)

42

12

Italian

21 (17 studied)

39.2 y [24–55,56 y]

17/17 (100%)

13/17 (76.4%)

0/17(0%)

43

13

Italian

3

17.7 y [12–22,23 y]

3/3 (100%)

1/3 (33%)

0/3 (0%)

42, 44

14

Italian

3

16.3 y [15–18 y]

3/3 (100%)

3/3 (100%)

0/3 (0%)

44, 45

15

Italian

4

30.3 y [18–48,49 y]

4/4 (100%)

3/4 (75%)

2/4 (50%)

17

16

Iraqi of Sephardic Jewish ancestry

15 (10 studied)

21 y [12–31,32 y]

10/10 (100%)

4/10 (40%)

2/10 (20%)

 

17

Israeli of Sephardic Jewish ancestry

2

21 y [21 y]

2/2 (100%)

2/2 (100%)

0/2 (0%)

 

18

South African of European ancestry

24 (15 studied)

15.8 y [11–19,20 y]

15/15 (100%)

7/15 (47%)

1/15 (7%)

46

19

French/ Spanish

13

41 y [30–59,60 y]

13/13 (100%)

8/13 (62%)

0/13 (0%)

13, 47

20

French

7 (2 studied)

20 y (n = 1) Childhood (n = 1)

2/2 (100%)

1/2 (50%)

0/2 (0%)

9

21

Syrian

1

20 y

1/1 (100%)

1/1 (100%)

0/1 (0%)

 

22

Italian

11 (10 studied)

25.1 y [14–39,40 y]

9/10 (90%)a

4/10 (40%)

1/10 (10%)

 
  1. CT cortical tremor, Focal Sz focal seizures, TCS tonic-clonic seizures, y years, n number of individuals
  2. aOne family member last evaluated at 9 years of age