Table 1 Clinical phenotypes and polymorphisms in migraine-related genes (SCN1A, CACNA1A, ATP1A2, KCNK18) in the study group
ID | Year of birth | Sex | Clinical phenotype | SCN1A, CACNA1A, ATP1A2, KCNK18 |
|---|---|---|---|---|
1 | 1980 | M | MA | |
2 | 1976 | F | F?HM | c.4498A>G, p.M1500V, rs376885324 (ex. 24 SCN1A) |
3 | 1978 | F | MA | rs2298771 (ex. 16 SCN1A) |
4a | 1952 | F | FHM | rs17846715 (ex. 16 ATP1A2) |
4b | 1978 | F | FHM | |
4c | 1980 | F | FHM | |
5 | 1967 | F | MO | |
6 | 1967 | F | MO | |
7a | 1954 | M | FHM + EPI | |
7b | 1982 | M | FHM + EPI | rs2298771 (ex. 16 SCN1A), rs16012 (ex. 13 CACNA1A) |
7c | 1984 | M | MO | rs2298771 (ex. 16 SCN1A) |
8 | 1980 | M | SHM | |
9 | 1958 | F | F?HM | |
10 | 1944 | F | MO | Novel intronic polymorphism c.4581 + 32A>G, between ex. 24 and 25 |
11 | 1946 | F | MO | |
12 | 1954 | F | MO | |
13 | 1982 | F | MA | |
14 | 1966 | F | MO | rs2298771 (ex. 16 SCN1A) |
15 | 1962 | M | MO | |
16 | 1972 | F | MA | c.691T>C, p.S231P, rs363315 (ex. 3 KCNK18), rs16016 (ex. 16 CACNA1A) |
17 | 1962 | M | MO | |
18 | 1968 | F | MO | |
19 | 1943 | F | MO | rs2298771 (ex. 16 SCN1A) |
20 | 1963 | F | F?HM | rs41288127, rs55884181 (ex. 22 ATP1A2) |
21 | 1957 | F | F?HM | |
22 | 1978 | F | MO | rs2298771 (ex. 16 SCN1A) |
23 | 1968 | F | MA | rs2298771 (ex. 16 SCN1A) |
24 | 1934 | F | MO | rs2298771 (ex. 16 SCN1A) |
25 | 1960 | F | MO | |
26 | 1953 | F | MA | rs16012 (ex. 13 CACNA1A) |
27 | 1973 | F | SHM | rs41276894 (ex. 4 CACNA1A) |
28 | 1977 | F | F?HM | |
29 | 1988 | M | SHM + MR | |
30 | 1969 | F | F?HM | rs61734524 (ex. 9 ATP1A2) |
31 | 1973 | F | SHM | rs17846715 (ex. 16 ATP1A2) |
32 | 1976 | M | MO | rs2298771 (ex. 16 SCN1A) |
33 | 1987 | F | SHM | rs17846715 (ex. 16 ATP1A2), rs41288127 (ex. 22 ATP1A2) |
34 | 1970 | F | MO | rs2298771 (ex. 16 SCN1A) |
35 | 1972 | F | MO | |
36 | 1968 | F | MO | |
37 | 1966 | F | MA | rs2298771 (ex. 16 SCN1A) |
38 | 1969 | F | MA | |
39a | 1988 | F | MO | |
39b | 1960 | F | MO | |
40 | 1970 | F | MO | |
41 | 1974 | F | MO | |
42 | 1958 | F | MO | |
43a | 1989 | M | MO (mutation in Leiden factor V) | rs61734524 (ex.9 ATP1A2), rs16016 (ex. 16 CACNA1A) |
43b | 1994 | F | FHM (mutation in factor V Leiden) | rs61734524 (ex.9 ATP1A2) |
43c | 1970 | F | FHM (mutation in factor V Leiden) | rs61734524 (ex.9 ATP1A2), rs16016 (ex. 16 CACNA1A) |
43d | 1950 | M | Ischemic stroke (mutation in factor V Leiden), mother with FHM + MA | |
44 | 1958 | F | MO + EA | |
45 | 1960 | F | MA | |
46a | 1943 | F | SHM mother | rs61734524 (ex. 9 ATP1A2) |
46b | 1984 | M | SHM | Not tested |
46c | 1943 | M | SHM father | |
47 | 1962 | F | MA | rs17846715 (ex. 16 ATP1A2) |
48 | 1967 | M | SHM | |
49 | 1963 | F | MA | |
50 | 1972 | F | SHM | rs61734524 (ex. 9 ATP1A2), rs17846715 (ex. 16 ATP1A2) |
51 | 1959 | F | MA | rs2298771 (ex. 16 SCN1A) |