Family | Age (years) | Age of seizure onset | Intellectual disability? | Maternal origin? | Varianta | Source |
---|---|---|---|---|---|---|
1 | 8 | 4y | Yc | N | c.2349T>G, p.(Tyr783*) | This study |
2 | 21 | 15mb | Y | Y | c.1537C > T, p.(Pro513Ser)e | This study |
3 | 5 | 2y | Yc | N | c.1988_1989del, p.(Arg663Asnfs*2) | This study |
4 | 10 | 6m | Y | N | c.1653_1656del, p.(Asn551Lysfs*4) | This study |
5 | 9 | 4y | N → Yd | Y | c.2545C > T, p.(Arg849*) | This study |
6 | 8 | 7d | Yc | N | c.2145 + 1G > A | This study |
7 | 9 | 8m | Yc | Y | arr [hg19] Xp22.12 (21,278,397–21,678,707) × 0 | This study |
8 | 7 | 2y | Y | N | c.1198C > T, p.(Arg400*) | This study |
9 | 9 | 4d | Yc | N | c.2044 + 2 T > A | This study |
10 | 5 | 2y | Yc | N | c.520-1G > A | This study |
11 | 11 | 23m | Y | N | c.2005del, p.(Ala669Glnfs*48) | This study |
12 | 3 | 2y | Yc | N | c.1905-2A > G | This study |
13 | 8 | 2y | Yc | N | c.2026_2027del, p.(Arg676Aspfs*2) | This study |
14 | 7 | 2y | Y | Y | arr [hg19] Xp22.12 (21,322,029–21,678,137) × 0 | Aypar et al. [1] |
15 | 5 | 2.5y | Y | Y | arr [hg19] Xp22.12 (21,375,312–21,609,484 × 0 | |
16 | 6 | 2y | Yc | Y | arr [hg19] Xp22.12 (20,297,696–21,471,387) × 0 | Vaags et al. [17] pt 1 |
8 | 27m | Yc | Y | Vaags et al. [17] pt 2 | ||
17 | 12 | 8d | Yc | Y | arr [hg19] Xp22.12 (21,193,947–21,707,169) × 0 | Vaags et al. [17] pt 4 |
13 | N/A | Yc | Y | Vaags et al. [17] pt 5 | ||
18 | 56 | ?b | Yc | Y | g.21458832_21458833ins, p.(Asp152Argfs*8) | |
58 | ?b | Yc | Y | |||
62 | ?b | Yc | Y | |||
19 | 18 | 3.5y | Yc | Y | c.2341C > T, p.(Arg712*) | Damiano et al. [5] |
12 | 3.5y | Y | Y | Damiano et al. [5] brother | ||
? | 3.5yb | Y | ? | Damiano et al. [5] maternal unclef | ||
20 | 9 | 2y | Y | N | c.2185C > T, p.(Arg729*) | Sun et al. [15] |
21 | 6 | 2y | Y | N | c.2024_2027del, p.(Glu657Glyfs*41) | Bonardi et al. [2] pt 1 |
22 | 21 | 3yb | N → Yd | N | c.246_247del, p.(Thr83Lysfs*30) | Bonardi et al. [2] pt 2 |
23 | 12 | 4y | Yc | Y (mosaic) | c.457_461del, p.(Tyr153Serfs*5) | Bonardi et al. [2] pt 3 |
24 | 10 | 3y | Yc | N | arr [hg19] Xp22.12 (21,609,392–21,619,786) × 0 | Bonardi et al. [2] pt 5 |
25 | 5 | 4y | Y | Y | arr [hg19] Xp22.12 (21,606,698–21,616,207) × 0 | Daoqi et al. [6] |
“Younger” | 3y | Y | Y | Daoqi et al. [6] brother | ||
26 | 6 | N/A | Y | Y | c.1904 + 1G > A | Zhang et al. [20] |
Females | ||||||
– | N/A | N | ? | c.1537C > T, p.(Pro513Ser) | Mother in family 2 | |
– | N/A | N | ? | c.2545C > T, p.(Arg849*) | Mother in family 5 | |
– | N/A | N | ? | arr [hg19] Xp22.12 (21,278,397–21,678,707) × 1 | Mother in family 7 | |
– | N/A | N | ? | arr [hg19] Xp22.12 (21,322,029–21,678,137) × 1 | Mother in family 14 | |
– | N/A | N | N | arr [hg19] Xp22.12 (21,375,312–21,609,484) × 1 | Mother in family 15 | |
– | N/A | N | ? | arr [hg19] Xp22.12 (20,297,696–21,471,387) × 1 | Mother in family 16 | |
16 | 6y | Y | Y | c.2341C > T, p.(Arg712*) | Sister in family 19 | |
? | febrile | N | N | Mother in family 19 | ||
27 | 7 | 5y | Y | N | c.2304G > A, (p.Trp768*) | Polla et al. [14] |
28 | 41 | 6yb | N → Yd | ? | arr [hg19] Xp22.12 (21,523,673–21,558,329) × 1 | |
? | Junior high | Y | N | arr [hg19] Xp22.12 (21,606,698–21,616,207) × 1 | Mother in family 25 | |
33 | N/A | ? | N | c.1904 + 1G > A | Mother in family 26 |