Table 2.

Demographic and Clinical Summary of FOXG1 Syndrome Study Population with Seizures by Mutation Type. Time to seizure resolution defined as time between date of seizure onset and seizure resolution (if resolved). Data for second and third seizures available in Supplementary Table 2.

		Mutation Type
	Deletion (N=11)	Mutation Duplication (N=2)	Type Frameshift (N=37)	Inframe deletion (N=1)	Missense (N=13)	Nonsense (N=10)	Total (N=74 )
Age at Study Onset (years):
Median [Min, Max]	4.74 [1.26, 34.9]	8.87 [4.42, 13.3]	6.00 [0.449, 19.2]	13.9 [13.9, 13.9]	6.13 [0.559, 20.0]	3.29 [0.794, 12.4]	5.81 [0.449, 34.9]
Missing	1 (9.1%)	0 (0%)	0 (0%)	0 (0%)	0 (0%)	0 (0%)	1 (1.4%)
Number of Diagnosed Seizures:
1	4 (36.4%)	1 (50.0%)	13 (36.1%)	1 (100%)	4 (33.3%)	3 (30.0%)	26 (36.1%)
2	4 (36.4%)	1 (50.0%)	12 (33.3%)	0 (0%)	4 (33.3%)	3 (30.0%)	24 (33.3%)
3	0 (0%)	0 (0%)	5 (13.9%)	0 (0%)	2 (16.7%)	3 (30.0%)	10 (13.9%)
4	1 (9.1%)	0 (0%)	3 (8.3%)	0 (0%)	1 (8.3%)	1 (10.0%)	6 (8.3%)
5	2 (18.2%)	0 (0%)	2 (5.6%)	0 (0%)	1 (8.3%)	0 (0%)	5 (6.9%)
7	0 (0%)	0 (0%)	1 (2.8%)	0 (0%)	0 (0%)	0 (0%)	1 (1.4%)
Missing	0 (0%)	0 (0%)	1 (2.7%)	0 (0%)	1 (7.7%)	0 (0%)	2 (2.7%)
Clinician Severity Score:
Median [Min, Max]	34.0 [28.0, 42.0]	NA	30.0 [22.0, 40.0]	34.0 [34.0, 34.0]	19.5 [10.0, 33.0]	30.0 [22.0, 39.0]	30.0 [10.0, 42.0]
Missing	4 (36.4%)	2 (100%)	13 (35.1%)	0 (0%)	3 (23.1%)	1 (10.0%)	23 (31.1%)
Motor Behavioral Assessment:
Median [Min, Max]	58.0 [47.0, 71.0]	NA	52.0 [32.0, 71.0]	56.0 [56.0, 56.0]	37.0 [14.0, 65.0]	50.0 [41.0, 64.0]	51.5 [14.0, 71.0]
Missing	4 (36.4%)	2 (100%)	13 (35.1%)	0 (0%)	2 (15.4%)	1 (10.0%)	22 (29.7%)
Head Circumferenc e Z-Score:
Median [Min, Max]	−4.14 [−6.32, −1.47]	NA	−4.15 [−6.35, −0.956]	−3.44 [−3.44, −3.44]	−1.71 [−5.00, 1.05]	−3.64 [−5.32, −2.62]	−3.76 [−6.35, 1.05]
Missing	0 (0%)	2 (100%)	4 (10.8%)	0 (0%)	0 (0%)	0 (0%)	6 (8.1%)
First Seizure: Diagnosis
Absence	1 (9.1%)	0 (0%)	1 (2.7%)	0 (0%)	0 (0%)	0 (0%)	2 (2.7%)
Infantile spasms	1 (9.1%)	1 (50.0%)	7 (18.9%)	0 (0%)	2 (15.4%)	0 (0%)	11 (14.9%)
Partial	5 (45.5%)	0 (0%)	12 (32.4%)	1 (100%)	4 (30.8%)	6 (60.0%)	28 (37.8%)
Tonic-clonic	4 (36.4%)	1 (50.0%)	11 (29.7%)	0 (0%)	5 (38.5%)	3 (30.0%)	24 (32.4%)
Myoclonic	0 (0%)	0 (0%)	2 (5.4%)	0 (0%)	0 (0%)	0 (0%)	2 (2.7%)
Tonic	0 (0%)	0 (0%)	3 (8.1%)	0 (0%)	1 (7.7%)	1 (10.0%)	5 (6.8%)
Missing	0 (0%)	0 (0%)	1 (2.7%)	0 (0%)	1 (7.7%)	0 (0%)	2 (2.7%)
First Seizure: Age at Onset (years):
Median [Min, Max]	1.12 [0.496, 14.2]	0.456 [0.329, 0.583]	0.999 [0.0329, 11.7]	1.06 [1.06, 1.06]	0.757 [0.241, 9.00]	0.956 [0.120, 4.40]	1.00 [0.0329, 14.2]
Missing	0 (0%)	0 (0%)	5 (13.5%)	0 (0%)	3 (23.1%)	2 (20.0%)	10 (13.5%)
First Seizure: Resolution
Ongoing	8 (72.7%)	0 (0%)	27 (73.0%)	1 (100%)	5 (38.5%)	7 (70.0%)	48 (64.9%)
Resolved	3 (27.3%)	2 (100%)	9 (24.3%)	0 (0%)	7 (53.8%)	3 (30.0%)	24 (32.4%)
Missing	0 (0%)	0 (0%)	1 (2.7%)	0 (0%)	1 (7.7%)	0 (0%)	2 (2.7%)
First Seizure: Age of Resolution (years):
Median [Min, Max]	1.82 [1.00, 36.4]	3.02 [1.62, 4.42]	7.05 [0.706, 9.67]	NA	1.59 [0.246, 20.0]	3.33 [2.42, 7.42]	3.07 [0.246, 36.4]
Missing	8 (72.7%)	0 (0%)	28 (75.7%)	1 (100%)	6 (46.2%)	7 (70.0%)	50 (67.6%)
First Seizure: Time to Resolution (years):
Median [Min, Max]	0.561 [0, 22.2]	2.56 [1.29, 3.83]	3.40 [0, 7.66]	NA	0.0329 [0, 11.0]	2.30 [2.17, 5.92]	2.05 [0, 22.2]
Missing	8 (72.7%)	0 (0%)	29 (78.4%)	1 (100%)	6 (46.2%)	7 (70.0%)	51 (68.9%)