TABLE 4.
SOX2 variant type and presence or absence of seizures and brain anomalies
| Seizures | No seizures | Unknown seizure | Brain anomalies | Normal brain MRI | Unknown brain MRI | Seizures and brain anomalies | Brain anomalies, no seizures | Brain anomalies, seizures unknown | Seizures, no brain anomalies | Seizures, unknown brain |
|
|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | 20 | 8 | 11 | 20 | 10 | 9 | 11 | 4 | 4 | 5 | 3 |
| Deletion/translocation | 4 | 2 | 2 | 6 | 1 | 1 | 4 | 1 | 1 | 0 | 0 |
| c.70_89del | 4 | 1 | 2 | 3 | 1 | 3 | 1 | 1 | 1 | 1 | 1 |
| Frameshift | 7 | 2 | 4 | 4 | 7 | 2 | 2 | 0 | 2 | 4 | 1 |
| Missense | 0 | 0 | 2 | 2 | 0 | 0 | 0 | 1 | 0 | 0 | 0 |
| Nonsense | 4 | 2 | 1 | 5 | 1 | 1 | 4 | 1 | 0 | 0 | 0 |