Table 1:
Bivariable Analysis Gene Type
| Gene Type | Total (n=92) n (%) | A (n=23) n (%) | B (n=26) n (%) | C (n=32) n (%) | D (n=11) n (%) | P-value* |
|---|---|---|---|---|---|---|
| Age at Seizure Onset (weeks) Median (IQR) | 5.0 (3.0,8.0) | 4.0 (2.0,24.0) | 5.0 (3.0,8.0) | 6.0 (4.0,10.5) | 5.0 (3.0,8.0) | 0.68 |
| Age at Last Visit (years) Median (IQR) | 5.0 (2.0,11.0) | 4.5 (2.5,9.0) | 5.0 (1.5,13.0) | 4.0 (2.0,9.0) | 9.5 (1.8,17.0) | 0.83 |
| Male (%) | 18 (20) | 5 (22) | 5 (19) | 5 (16) | 3 (27) | 0.85 |
| Seizure Type (Initial) (%) | ||||||
| Epileptic Spasms | 21 (23) | 5 (22) | 5 (19) | 9 (28) | 2 (18) | 0.84 |
| Tonic | 29 (32) | 7 (30) | 12 (46) | 7 (22) | 3 (27) | 0.25 |
| HTSS | 9 (10) | 1 (4) | 2 (8) | 3 (9) | 3 (27) | 0.19 |
| GTC | 20 (22) | 7 (30) | 2 (8) | 8 (25) | 3 (27) | 0.22 |
| Myoclonic | 6 (7) | 1 (4) | 2 (8) | 3 (9) | 0 (0) | 0.70 |
| Clonic | 8 (9) | 0 (0) | 4 (15) | 3 (9) | 1 (9) | 0.30 |
| Focality | 20 (22) | 6 (26) | 8 (31) | 5 (16) | 1 (9) | 0.36 |
| Hypsarrhythmia (%)* | 35 (38) | 9 (39) | 10 (38) | 9 (28) | 7 (64) | 0.25 |
| Seizure Types (Anytime) (%) | ||||||
| Epileptic Spasms | 75 (82) | 17 74) | 23 (88) | 26 (81) | 9 (82) | 0.63 |
| Tonic | 59 (64) | 16 (70) | 15 (58) | 21 (66) | 7 (64) | 0.85 |
| HTSS Combined | 52 (57) | 13 (57) | 17 (65) | 17 (53) | 5 (45) | 0.68 |
| HTSS | 22 (24) | 6 (26) | 8 (31) | 5 (16) | 3 (27) | 0.57 |
| HTSS like | 31 (34) | 8 (35) | 9 (35) | 12 (38) | 2 (18) | 0.70 |
| Generalized Tonic Clonic | 31 (34) | 8 (35) | 7 (27) | 13 (41) | 3 (27) | 0.70 |
| Myoclonic | 36 (39) | 9 (39) | 11 (42) | 12 (38) | 4 (36) | 0.98 |
| Clonic | 10 (11) | 4 (17) | 3 (12) | 2 (6) | 1 (9) | 0.62 |
| Atonic | 8 (9) | 1 (4) | 1 (4) | 3 (9) | 3 (27) | 0.11 |
| Absence | 2 (2) | 0 (0) | 0 (0) | 1 (3) | 1 (9) | 0.30 |
| Focality | 28 (30) | 10 (43) | 9 (35) | 6 (19) | 3 (27) | 0.24 |
| Period of Seizure Freedom (%) | ||||||
| 1–3 months | 8 (9) | 2 (9) | 2 (8) | 2 (6) | 2 (18) | 0.68 |
| 3–6 months | 11 (12) | 3 (13) | 1 (4) | 6 (19) | 1 (9) | 0.37 |
| 6–12 months | 10 (11) | 3 (13) | 4 (15) | 2 (6) | 1 (9) | 0.71 |
| > 12 months | 11 (12) | 3 (13) | 2 (8) | 4 (13) | 2 (18) | 0.83 |
| Combined Seizure Freedom FrffsdfFreeFreedom | 40 (43) | 11 (48) | 9 (35) | 14 (44) | 6 (55) | 0.67 |
| Cortical Visual Impairment (%) | 70 (76) | 18 (78) | 23 (88) | 22 (69) | 7 (64) | 0.25 |
| CDS - Mean (std) | 2.6 (2.1) | 2.7 (1.9) | 2.5 (2.2) | 2.6 (2.2) | 2.8 (2.2) | 0.96 |
Gene type grouping is based on prior publication1 as explained in the introduction and methods. Seizure types are not mutually exclusive. Specifically, focality could represent either a focal seizure or one of the other seizure types with focal features (for example an asymmetric tonic seizure was marked as both focality and tonic seizure). CDS – CDKL5 Developmental Score is a 7-point scale based on achievement of milestones. The p-values shown in the table have not been adjusted for multiple comparisons.