TABLE 1.
Phenotypic data of the whole study cohort and comparison of patients with and without identified genetic cause.
| Characteristic | Whole cohort | Patients without identified genetic cause | Patients with identified genetic cause | Comparison identified vs. no identified genetic cause |
|---|---|---|---|---|
| n = 52 a | n = 36 a | n = 16 a | P‐value b | |
| Age | 27 (range 20‐57, IQR 23‐33) | 29 (range 20‐57, IQR 26‐34) | 24 (range 21‐46, IQR 23‐30) | 0.13 |
| Sex | 0.049 | |||
| Male | 30 (58%) | 24 (67%) | 6 (38%) | |
| Female | 22 (42%) | 12 (33%) | 10 (62%) | |
| Epilepsy type | 0.2 | |||
| Focal | 12 (32%) | 10 (42%) | 2 (14%) | |
| Multifocal | 8 (21%) | 5 (21%) | 3 (21%) | |
| Generalized | 18 (47%) | 9 (38%) | 9(64%) | |
| Unknown | 14 | 12 | 2 | |
| Epileptogenic lesion on MRI | 10 (24%) | 9 (33%) | 1 (7.1%) | 0.12 |
| Unknown | 11 | 9 | 2 | |
| Febrile seizures | 8 (17%) | 4 (12%) | 4 (25%) | 0.4 |
| Unknown | 4 | 4 | 0 | |
| Age of onset – Epilepsy | 3.0 (range 0‐26, IQR 0.6‐10.0) | 4.5 (range 0.1‐26, IQR 0.6‐10.0) | 2.8 (range 0‐18, IQR 1.6‐10.2) | 0.8 |
| Unknown | 2 | 2 | 0 | |
| Age of ascertainment – Cognitive deficits | 1.00 (range 0‐12, IQR 0.25‐3.00) | 1.50 (range 0‐12, IQR 0.40‐3.00) | 0.88 (range 0‐8, IQR 0.08‐2.62) | 0.4 |
| Unknown | 3 | 3 | 0 | |
| Seizure frequency at last follow‐up (over last 3 months) | 0.4 | |||
| No seizures | 21 (40%) | 13 (36%) | 8 (50%) | |
| <1/month | 1 (1.9%) | 0 (0%) | 1 (6.2%) | |
| 1/week – 1/month | 8 (15%) | 6 (17%) | 2 (12%) | |
| 1/day – 1/week | 6 (12%) | 4 (11%) | 2 (12%) | |
| Daily | 16 (31%) | 13 (36%) | 3 (19%) | |
| Seizure free for 1 year c | 12 (23%) | 7 (19%) | 5 (31%) | 0.5 |
| Drug resistant | 34 (65%) | 24 (67%) | 10 (62%) | 0.8 |
| Degree of intellectual disability | 0.8 | |||
| Mild | 14 (27%) | 11 (31%) | 3 (19%) | |
| Moderate | 18 (35%) | 11 (31%) | 7 (44%) | |
| Severe | 10 (19%) | 7 (19%) | 3 (19%) | |
| Profound | 10 (19%) | 7 (19%) | 3 (19%) | |
| Family history of epilepsy | 17 (33%) | 13 (36%) | 4 (25%) | 0.4 |
| Genetic cause identified | 16 (31%) | 0 (0%) | 16 (100%) |
a
Median (range, IQR: interquartile range); n (%).
b
Wilcoxon rank sum test; Pearson's Chi‐squared test; Fisher's exact test.
c
Patients with ongoing continuous spike‐and‐wave during sleep were not considered seizure free.