Table 3.
Demographic and Clinical Summary of FOXG1 Syndrome Study Population by Seizure Type. Time to seizure resolution defined as time between date of seizure onset and seizure resolution (if resolved). Table excludes unclassified seizures (n = 2).
| Seizure Type | ||||||||
|---|---|---|---|---|---|---|---|---|
| Absence (N=11) | Atonic (N=2) | Infantile spasms (N=15) | Myoclonic (N=4) | Partial (N=59) | Tonic (N=6) | Tonic-clonic (N=54) | Total (N=151) | |
|
| ||||||||
| Sex: | ||||||||
| Female | 9 (81.8%) | 1 (50.0%) | 4 (26.7%) | 3 (75.0%) | 30 (50.8%) | 3 (50.0%) | 28 (51.9%) | 78 (51.7%) |
| Male | 2 (18.2%) | 1 (50.0%) | 11 (73.3%) | 1 (25.0%) | 29 (49.2%) | 3 (50.0%) | 26 (48.1%) | 73 (48.3%) |
| Mutation Type: | ||||||||
| Deletion | 4 (36.4%) | 0 (0%) | 1 (6.7%) | 0 (0%) | 8 (13.6%) | 1 (16.7%) | 9 (16.7%) | 23 (15.2%) |
| Duplication | 0 (0%) | 0 (0%) | 1 (6.7%) | 0 (0%) | 0 (0%) | 0 (0%) | 2 (3.7%) | 3 (2.0%) |
| Frameshift | 5 (45.5%) | 1 (50.0%) | 11 (73.3%) | 3 (75.0%) | 29 (49.2%) | 3 (50.0%) | 26 (48.1%) | 78 (51.7%) |
| In-frame deletion | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 1 (1.7%) | 0 (0%) | 0 (0%) | 1 (0.7%) |
| Missense | 1 (9.1%) | 0 (0%) | 2 (13.3%) | 1 (25.0%) | 10 (16.9%) | 1 (16.7%) | 11 (20.4%) | 26 (17.2%) |
| Nonsense | 1 (9.1%) | 1 (50.0%) | 0 (0%) | 0 (0%) | 11 (18.6%) | 1 (16.7%) | 6 (11.1%) | 20 (13.2%) |
| Age at Seizure Onset (years): | ||||||||
| Median [Min, Max] | 1.73 [0.564, 7.00] | 7.69 [6.37, 9.00] | 0.832 [0.329, 3.92] | 0.652 [0.353, 0.999] | 1.54 [0.0329, 20.7] | 1.40 [0.246, 2.38] | 1.81 [0.0329, 18.0] | 1.48 [0.0329, 20.7] |
| Missing | 1 (9.1%) | 0 (0%) | 2 (13.3%) | 0 (0%) | 6 (10.2%) | 0 (0%) | 4 (7.4%) | 13 (8.6%) |
| Seizure Resolution: | ||||||||
| Ongoing | 7 (63.6%) | 0 (0%) | 9 (60.0%) | 4 (100%) | 40 (67.8%) | 3 (50.0%) | 37 (68.5%) | 100 (66.2%) |
| Resolved | 4 (36.4%) | 2 (100%) | 6 (40.0%) | 0 (0%) | 19 (32.2%) | 3 (50.0%) | 17 (31.5%) | 51 (33.8%) |
| Age of Seizure Resolution (years) | ||||||||
| Median [Min, Max] | 4.68 [1.00, 9.67] | 13.7 [11.4, 16.0] | 1.27 [0.591, 1.82] | NA | 5.60 [0.241, 20.0] | 7.37 [0.246, 9.67] | 3.16 [0.706, 36.4] | 3.33 [0.241, 36.4] |
| Missing | 7 (63.6%) | 0 (0%) | 9 (60.0%) | 4 (100%) | 40 (67.8%) | 3 (50.0%) | 37 (68.5%) | 100 (66.2%) |
| Time to Seizure Resolution (years) | ||||||||
| Median [Min, Max] | 3.28 [0, 6.20] | 6.00 [5.00, 7.00] | 0.167 [0, 1.29] | NA | 2.02 [0, 11.0] | 5.56 [0, 7.29] | 0.627 [0, 22.2] | 1.14 [0, 22.2] |
| Missing | 7 (63.6%) | 0 (0%) | 10 (66.7%) | 4 (100%) | 41 (69.5%) | 3 (50.0%) | 38 (70.4%) | 103 (68.2%) |