Table 1.
Epileptic encephalopathy cohort screened for mutations in 65 novel and known genes
| Syndrome | N | Pathogenic or likely pathogenic variant (% of syndrome) |
|---|---|---|
| ABPE | 6 | 0 |
| Dravet | 19 | 4 (21%)† |
| ECSWS | 10 | 0 |
| Epileptic encephalopathy not otherwise specified | 173 | 22 (13%) |
| EME | 5 | 1 (20%) |
| EOEE | 39 | 8(21%) |
| Epilepsy-Aphasia | 27 | 3 (11%) |
| FIRES | 12 | 0 |
| IS | 81 | 4(5%) |
| LKS | 3 | 0 |
| LGS | 40 | 5 (13%) |
| MAE | 81 | 3 (4%) |
| Ohtahara | 4 | 2 (50%) |
| TOTAL | 500 | 52 (10%) |
ABPE = Atypical Benign Partial Epilepsy; ECSWS, = Epileptic encephalopathy with Continuous Spike-and-Wave during Sleep; EME = Early Myoclonic Encephalopathy, EOEE = Early Onset Epileptic Encephalopathy; FIRES = Febrile Infection-Related Epilepsy Syndrome; IS = Infantile Spasms; LKS = Landau-Kleffner Syndrome; LGS = Lennox-Gastaut Syndrome; MAE = Myoclonic Atonic Epilepsy
†
Note that in 4 of the Dravet syndrome cases included here, SCN1A testing had not yet been undertaken.