Candidate gene identification outside hotspot loci
| Nominally associated genes | Chr | Start | End | Patients (n=2454) | Controls (n=6746) | Nominal p value | Constrained gene* |
| RBFOX1 | 16 | 6 069 131 | 7 763 340 | 3 (AFE, AFE, GGE) | 0 | 0.019 | No |
| NRXN1 | 2 | 50 145 642 | 51 259 674 | 3 (GGE, GGE, RE) | 0 | 0.019 | No |
| Candidate genes | |||||||
| LOC102723362 | 2 | 22 759 350 | 22 761 159 | 2 (GGE, RE) | 0 | 0.0711 | Yes |
| PCDH7 | 4 | 30 722 036 | 31 148 423 | 2 (AFE, GGE) | 0 | 0.0711 | No |
| PACRG | 6 | 163 148 164 | 163 736 524 | 2 (GGE, AFE) | 0 | 0.0711 | Yes |
| ADGRB1, TSNARE1, LINC00051, MIR1302-7, MIR4472-1, MIR4539 | 8 | 142 867 603 | 143 626 368 | 2 (GGE, GGE) | 0 | 0.0711 | No, No, Yes, Yes, Yes, No |
| LOC101928137 | 12 | 73 552 969 | 73 602 097 | 2 (GGE, GGE) | 0 | 0.0711 | Yes |
| DDG2P genes | |||||||
| SKI, DVL1 | 1 | 1 270 658 | 2 241 652 | 1 (AFE) | 0 | 0.267 | Yes, No |
| KCNA2 | 1 | 111 136 202 | 111 174 096 | 1 (GGE) | 0 | 0.267 | Yes |
| GCH1 | 14 | 55 308 724 | 55 369 542 | 1 (RE) | 0 | 0.267 | No |
*Constrained gene according to the CNV map of healthy individuals.10
AFE, adult focal epilepsy; GGE, genetic generalised epilepsy; RE, rolandic epilepsy.
Single gene and candidate gene enrichment analysis. Associated genes: genes identified due to nominal enrichment in patients. Candidate genes: epilepsy candidate genes deleted at least twice in patients and not deleted in the control cohort.