TABLE 1.
Demographic, molecular and clinical characteristics of the study cohort
|
Total sample N = 257 |
% | |
|---|---|---|
| Median age, y (IQR) | 37.00 (26.5–48) | |
| Gender, n (%) | ||
| Male | 111 | 43.2 |
| Female | 146 | 56.8 |
| Familial cases | 71 | 27.6 |
| Level of education, median years of schooling (IQR) | 11.00 (8–13) | |
| Genetic analysis, n (%) | ||
| TSC1 | 76 | 29.6 |
| TSC2 | 140 | 54.5 |
| NMI | 23 | 8.9 |
| NA | 18 | 7.0 |
| Severity score, median (IQR) | 2.00 (1–5) | |
| IQ, n (%) | ||
| Normal IQ | 131 | 51.0 |
| BIF | 20 | 7.8 |
| Mild ID | 21 | 8.2 |
| Moderate ID | 22 | 8.6 |
| Severe ID | 52 | 20.0 |
| ID not otherwise specified | 4 | 1.5 |
| NA | 7 | 2.7 |
| IQ, median (IQR) | ||
| Full scale IQ | 74.00 (52.75–90) | |
| Verbal IQ | 74.00 (57–88) | |
| Performance IQ | 79.00 (54–96) | |
| Cortical tubers, n (%) | 245 | 95.3 |
| Subependymal nodules, n (%) | 198 | 77.0 |
| SEGA, n (%) | 48 | 18.7 |
| Psychiatric disorders, n (%) | 113 | 44.0 |
| Epilepsy, n (%) | ||
| Yes | 183 | 71.2 |
| Single seizure | 4 | 1.6 |
| No | 70 | 27.2 |
|
Patients with Epilepsy N = 183 |
% |
|
|---|---|---|
| Epilepsy onset, median age in months (IQR) | 9.00 (9–60) | |
| Seizure type at onset, n (%) | ||
| Focal onset seizures | 105 | 57.3 |
| IS | 53 | 29.0 |
| Focal onset seizures and IS | 10 | 5.5 |
| Absences | 4 | 2.2 |
| Generalized tonic‐clonic seizures | 3 | 1.6 |
| Tonic seizures | 1 | 0.5 |
| NA | 7 | 3.8 |
| History of IS, n (%) | 76 | 41.5 |
| Epilepsy syndrome | ||
| Focal/multifocal epilepsy | 137 | 74.9 |
| Generalized epilepsy | 8 | 4.4 |
| Lennox‐Gastaut syndrome | 10 | 5.5 |
| Not determined | 28 | 15.3 |
| Stop seizures, n (%) | 59 | 32.2 |
| Median age at seizure freedom (IQR) | 18.00 (10–29) | |
| Drug resistance | 121 | 66.1 |
| Antiepileptic therapy, n (%) | ||
| Polytherapy | 86 | 47.0 |
| Monotherapy | 60 | 32.8 |
| None | 15 | 8.2 |
| NA | 22 | 12.0 |
| Everolimus | 5 | 2.7 |
| VNS | 4 | 2.2 |
| Epilepsy surgery | 11 | 6.0 |
| Febrile seizures, n (%) | 21 | 11.5 |
| Status (not febrile), n (%) | 24 | 13.1 |
Abbreviations: BIF, borderline intelligence functioning; ID, intellectual disability; IQ, intelligence quotient; IQR, interquartile range; IS, Infantile Spasms; NA, not available; NMI, no mutation identified; SEGA, subependymal giant cell astrocytoma; VNS, vagus nerve stimulation.