Family No. | Proband | Sex | Age of seizure onset | Age at last follow-up | Nucleotide change | Amino acid change |
---|---|---|---|---|---|---|
1 | V-15 | F | 4.5Â m | 4y5Â m | c.649_650insC | p.R217PfsX8 |
2 | V-1 | F | 5Â m | 10Â m | c.649_650insC | p.R217PfsX8 |
3 | IV-9 | F | 4Â m | 1y | c.649_650insC | p.R217PfsX8 |
4 | IV-3 | F | 4.5Â m | 2y5m | c.649_650insC | p.R217PfsX8 |
5 | IV-1 | F | 7Â m | 1y2m | c.649_650insC | p.R217PfsX8 |
6 | IV-3 | F | 4.5Â m | 2y9m | c.649_650insC | p.R217PfsX8 |
7 | III-4 | F | 3.5Â m | 4y | c.649_650insC | p.R217PfsX8 |
8 | II-3 | M | 3.5Â m | 8Â m | c.649_650insC | p.R217PfsX8 |
9 | III-1 | F | 5Â m | 4y5m | c.649_650insC | p.R217PfsX8 |
10 | III-1 | F | 3.5Â m | 5y8m | c.649delC | p.R217EfsX12 |
11 | III-1 | M | 3Â m | 3y2m | c.649delC | p.R217EfsX12 |
12 | III-1 | M | 4Â m | 8Â m | c.649delC | p.R217EfsX12 |
13 | IV-1 | M | 6Â m | 3y | c.904_905insG | p.D302GfsX39 |
14 | IV-20 | M | 3Â m | 6y10m | none | none |
15 | III-1 | M | 3.5Â m | 5y11m | none | none |
16 | III-4 | F | 6Â m | 2y11m | none | none |
17 | III-2 | M | 4Â m | 5y7m | none | none |
18 | III-1 | M | 4.5Â m | 3y | none | none |
19 | III-1 | M | 3Â m | 1y | none | none |
20 | III-4 | F | 10Â m | 1y10m | none | none |
21 | IV-1 | F | 11Â m | 2y1m | none | none |
22 | IV-1 | F | 8Â m | 3y7m | none | none |