Table 1.
Case and controls numbers per cohort of all samples included in analysis. ‘Screen-positive’ and ‘screen-negative’ indicate the subset of cases in each cohort that did or did not contain an identifiable likely damaging genetic variant, respectively (see Methods: qualifying rare variant analysis). Cohorts which were paired for analysis are grouped by colour.
| Cohort | Epilepsy | Screen-positive | Screen-negative | Controls | Phenotype | Data types |
|---|---|---|---|---|---|---|
| Epi25 | 1,094 | 163 | 931 | 210 | DEE | Microarray + exome |
| Partner's Biobank | 0 | 0 | 0 | 19,762 | Controls only | Microarray |
| Epi4K | 266 | 44 | 77 | 0 | DEEs | Microarray + exome |
| QSkin | 0 | 0 | 0 | 15,717 | Controls only | Microarray |
| CENet | 171 | 40 | 86 | 0 | DEE | WGS + microarray |
| Canadian Controls | 0 | 0 | 0 | 6,901 | Controls only | Microarray |
| DDD | 897 | 152 | 745 | 0 | Seizures + ID | Microarray + exome |
| UK Biobank | 0 | 0 | 0 | 400,835 | Controls only | Microarray |
| Irish Lighthouse | 82 | 29 | 53 | 0 | Epilepsy + ID | Exome (trios) + microarray (probands) |
| Irish Controls | 0 | 0 | 0 | 2,404 | Controls only | Microarray |
| Genomics England | 249 | 32 | 217 | 1,931 | Epilepsy + ID and controls | WGS |
| Total | 2,759 | 460 | 2,109 | 447,760 |