Table 1 Comparison of reported pedigrees and cases with CNKSR2 gene variants

1 (two siblings)

Vaags et al.

arr[hg19]Xp22.12(20,297,696–21,471,387) × 0[mat]

Yes

Yes

Yes

Continuous spike-and-slow-waves

Yes

Mild learning disability

2

Vaags et al.

arr[hg19]Xp22.12(21,375,312–21,609,484) × 0[mat]

Yes

Yes

Yes

Continuous spike-and-slow-waves

Yes

N/A

3 (two siblings)

Vaags et al.

arr[hg19]Xp22.12(21,193,947–21,707,169) × 0[mat]

Yes

Yes

One sibling without seizure

No

Yes

N/A

4 (three siblings)

Vaags et al.

c.452insA p,D152Rfs*8

Yes

Yes

Yes

N/A

Yes

N/A

5 (three siblings)

Damiano et al.

c.2314 C > T; p.Arg712*

Yes

Yes

Yes

Centrotemporal or frontal spike and wave activity

Yes

Febrile seizures

6

Aypar et al.

arr[hg19]Xp22.12(21,328,677–21,670,497) × 0[mat]

Yes

N/A

Yes

Frequent and continuos centro-temporal spike and wave

Yes

Normal

7

Houge et al.

arr[hg19]Xp22.12(21,285,233–21,519,405) × 0[mat]

Yes

Yes

Yes

N/A

Yes

Normal

8

Sun et al

. c.2185C > T, p.Arg729*

Yes

Yes

Yes

Continuous spike-and-wave pattern

Yes

N/A

Our case

c.1904 + 1G > A

No

Yes

No

No

Mild

Mild learning disability