Table 2.
Clinical diagnosis in 172 refractory epilepsy and their pathogenic or likely pathogenic mutations
| Clinical diagnosis | Cases | P/LP mutations | P/LP gene(recurrent no.) |
|---|---|---|---|
| DS | 23 | 16 | SCN1A (16) |
| OS | 10 | 2 | KCNQ2 (1), SCN2A (1) |
| OS-WS | 2 | 1 | STXBP1 (1) |
| WS | 10 | 4 | STXBP1 (1), KCNT1 (1), CDKL5 (1), ADSL (1) |
| WS-LGS | 2 | – | – |
| LGS | 5 | – | – |
| EIMFS | 2 | – | – |
| ECSWS | 2 | – | – |
| EME | 1 | – | – |
| LKS | 1 | – | – |
| UEE | 42 | 8 | CACNA1A (1), GABRA1 (1), GABRB3 (1), SCN8A (2), IQSEC2 (1), PCDH19 (1), CHD2 (1) |
| Doose | 4 | 1 | SYNGAP1 (1) |
| TLE | 1 | – | – |
| GLUT1-DS | 1 | 1 | SLC2A1 (1) |
| Rett | 3 | 1 | MECP2 (1) |
| TSC | 5 | 5 | TSC2 (5) |
| SWS | 1 | – | – |
| UE | 57 | 4 | VRK2 (1), ATP1A2 (1), TSC (1), SLC9A6 (1) |
| Total | 172 | 43 | – |
P pathogenic, LP likely pathogenic, DS Dravet syndrome, OS Ohtahara syndrome, OS-WS Ohtahara syndrome evolves to West syndrome, WS West syndrome, WS-LGS West syndrome evolves to Lennox-Gastaut syndrome, LGS Lennox-Gastaut syndrome, Doose Doose syndrome, ECSWS epileptic encephalopathy with continuous spike and wave during sleep, EIMFS epilepsy of infancy with migrating focal seizures, TLE temporal lobe epilepsy, EME early myoclonic encephalopathy, LKS Landau-Kleffner syndromes, UEE unclassified epileptic encephalopathy, GLUT1-DS glucose transporter type 1 deficiency syndrome. Rett Rett syndrome, TSC tuberous sclerosis complex, SWS Sturge-Weber syndrome, UE unclassified refractory epilepsy