Table 1:
Diagnostic yield of research WES across epilepsy diagnoses
| Epilepsy diagnoses | n | P finding | LP finding | VUS | unsolved |
|---|---|---|---|---|---|
| DEE | 88 | 30 (34%) | 9 (10%) | 17 (19%) | 32 (36%) |
| Infantile spasms | 44 | 8 (18%) | 8 (18%) | 10 (23%) | 18 (41%) |
| Ohtahara syndrome | 26 | 12 (46%) | 1 (4%) | 4 (15%) | 9 (35%) |
| DEE, other | 18 | 10 (56%) | 0 (0%) | 3 (17%) | 5 (28%) |
| FIRES | 5 | 0 (0%) | 0 (0%) | 0 (0%) | 5 (100%) |
| Rasmussen encephalitis | 5 | 0 (0%) | 0 (0%) | 1 (20%) | 4 (80%) |
| Other focal epilepsies | 12 | 1 (8%) | 3 (25%) | 0 (0%) | 8 (67%) |
| Other generalized epilepsies | 14 | 6 (43%) | 3 (21%) | 1 (7%) | 4 (29%) |
| Prolonged febrile seizures | 1 | 0 (0%) | 0 (0%) | 0 (0%) | 1 (100%) |
| Total | 125 | 35 (28%) | 16 (12%) | 19 (15%) | 56 (44%) |
Detection rate of WES analysis according to epilepsy syndrome. DEE = developmental and epileptic encephalopathy; FIRES = Febrile Infection-Related Epilepsy Syndrome; LP = likely pathogenic; n = number of patients; P = pathogenic; VUS = variant of unknown significance; WES = whole exome sequencing.