Table 4. Presumed disease-causative genes of non-familial epilepsies.
| P/LP variants† | Pt_ID‡ | Sex/Age*, years | Drug response | Febrile seizure | Epilepsy classification | Etiology | |
|---|---|---|---|---|---|---|---|
| ION CHANNEL-RELATED GENES | |||||||
| CHRNA4 | p.Arg345Cys | DK085 | M/26 (12) | DS | N | Focal | Non-lesional |
| GABRG2 | p.Ser8Arg | JN086 | M/22 (4) | DR | N | Focal | Tumor |
| JN167 | M/68 (10) | DR | Y | Focal | Non-lesional | ||
| HCN1 | p.Ser100Ala | SC009 | M/24 (15) | DS | N | Focal | Non-lesional |
| KCNB1 | p.Ile463Thr | JN134 | F/52 (29) | DS | Y | Focal | FCD |
| KCNT1 | p.Glu892Lys | SU059 | M/25 (20) | DR | N | Focal | Non-lesional |
| SCN1A | p.Thr398Met | JN129 | F/43 (29) | DR | N | Focal | HS |
| p.Val971Ile | JN168 | M/30 (1) | DR | N | Focal | Non-lesional | |
| KG012 | M/43 (38) | DR | N | Focal | Trauma | ||
| p.Arg1575Cys | JN046 | F/54 (16) | DS | N | Focal | Non-lesional | |
| JN166 | F/43 (29) | DS | N | Focal | Non-lesional | ||
| SCN9A | p.Asn641Ser | DK098 | F/35 (12) | DR | NA | Focal | HS |
| mTOR PATHWAY-RELATED GENES | |||||||
| DEPDC5 | p.Arg587X | DK023 | F/26 (19) | DS | N | Focal | Non-lesional |
| p.Pro1031His | SU059 | M/25 (20) | DR | N | Focal | Non-lesional | |
| JN114 | M/38 (11) | DS | N | Focal | Non-lesional | ||
| TSC1 | p.Ser829Arg | SU036 | M/40 (1) | DR | N | Focal | FCD |
| KH015 | F/45 (37) | DS | N | Focal | HS | ||
| p.Thr899Ser | SU023 | M/33 (21) | DR | N | Focal | FCD | |
| JN036 | M/51 (41) | DS | Y | Focal | Trauma | ||
| p.Pro1143Leu | JN224 | F/65 (55) | DS | N | Focal | Encephalitis | |
| TSC2 | p.Val963Met | KH016 | F/42 (34) | DR | N | Focal | HS |
| p.Leu1027Pro | JN056 | M/37 (7) | DR | N | Focal | TS | |
| p.Glu1476Gln | JN051 | M/49 (28) | DR | N | Focal | HS | |
| p.Glu1490Gly | EW001 | F/64 (8) | DR | N | Focal | HS | |
| p.Arg1529Gln | JN006 | F/31 (18) | DS | N | Focal | Non-lesional | |
| ADHESION MOLECULE/RECEPTOR-RELATED GENES | |||||||
| ADGRV1 | p.His1859Arg | JN036 | M/51 (41) | DS | Y | Focal | Trauma |
| JN023 | F/25 (5) | DR | Y | Focal | HS | ||
| DK066 | F56 (46) | DS | N | Generalized | Non-lesional | ||
| CNTNAP2 | p.Ile172Thr | SU023 | M/33 (21) | DR | N | Focal | FCD |
| p.Arg1288Cys | JN041 | M/38 (17) | DR | N | Focal | Non-lesional | |
| SIGNAL TRANSDUCTION-RELATED GENES | |||||||
| EFHC1 | p.Arg294Cys | JN172 | M/36 (32) | DS | Y | Focal | Trauma |
| PRICKLE1 | p.Ala541Ser | JN072 | M/60 (33) | DR | Y | Focal | Non-lesional |
| JN224 | F/65 (55) | DS | N | Focal | Encephalitis | ||
| YC009 | M/34 (2) | DR | Y | Focal | Non-lesional | ||
| EXTRACELLULAR MATRIX-RELATED GENES | |||||||
| RELN | p.Lys751Thr | SU018 | F/44 (7) | DR | N | Focal | Non-lesional |
| p.Thr1904Met | DK021 | F/44 (25) | DR | N | Focal | HS | |
| JN056 | M/37 (7) | DR | N | Focal | TS | ||
Notes:
†
Bold denotes variants classified as pathogenic.
‡
Bold denotes participant with two P/LPs.
*
Age at recruitment (at seizure onset).
Abbreviations: DR, drug refractory group; DS, drug responsive group; FCD, focal cortical dysplasia; HS, hippocampal sclerosis; NA, not available; P/LP, pathogenic/likely pathogenic variant; TS, tuberous sclerosis; mTOR, mammalian target of rapamycin.