TABLE 1.
Performance of all-keyword search method compared to manual chart review
| Rare Epilepsy | TP | FP | Total | PPV |
|---|---|---|---|---|
| Aicardi syndrome | 41 | 249 | 290 | 0.14 |
| Alpers disease | 5 | 11 | 16 | 0.31 |
| Angelman syndrome | 52 | 76 | 128 | 0.41 |
| CDKL5 | 28 | 49 | 77 | 0.36 |
| Dravet syndrome | 89 | 115 | 204 | 0.44 |
| Dup15q syndrome | 13 | 11 | 24 | 0.54 |
| Early infantile developmental and epileptic encephalopathy | 25 | 80 | 105 | 0.24 |
| EE-SWAS/ESES | 68 | 454 | 522 | 0.13 |
| EMAS | 107 | 442 | 549 | 0.19 |
| Epilepsy in infancy with migrating focal seizures | 6 | 6 | 12 | 0.50 |
| Fragile X syndrome | 1 | 13 | 14 | - |
| Glut1 deficiency | 14 | 67 | 81 | 0.17 |
| Holoprosencephaly | 10 | 280 | 290 | 0.03 |
| Hypothalamic hamartoma with seizures | 40 | 43 | 83 | 0.48 |
| Infantile spasms | 434 | 700 | 1134 | 0.38 |
| KCNQ2 related epilepsy | 19 | 45 | 64 | 0.30 |
| Lennox-Gastaut syndrome | 511 | 265 | 776 | 0.66 |
| Myoclonic epilepsy with ragged red fibers | 1 | 23 | 24 | 0.04 |
| Neuronal ceroid lipofuscinosis | 56 | 205 | 261 | 0.21 |
| PCDH19 | 3 | 13 | 16 | 0.19 |
| Phelan-McDermid syndrome | 8 | 17 | 25 | 0.32 |
| Prader Willi syndrome | 15 | 102 | 117 | 0.13 |
| Rasmussen syndrome | 25 | 31 | 56 | 0.45 |
| Rett syndrome | 180 | 349 | 529 | 0.34 |
| Ring Chromosome 14 | 2 | 64 | 66 | 0.03 |
| Ring Chromosome 20 | 6 | 131 | 137 | 0.04 |
| SCN2A | 9 | 12 | 21 | 0.43 |
| SCN8A | 1 | 13 | 14 | 0.07 |
| SLC13a5 | 0 | 0 | 0 | - |
| Sturge-Weber syndrome | 99 | 66 | 165 | 0.60 |
| SYNGAP | 0 | 1 | 1 | - |
| Tuberous sclerosis complex | 200 | 48 | 248 | 0.81 |
| Unverricht-Lundborg Disease | 0 | 46 | 46 | - |
| Total | 2,068 | 4,027 | 6,095 | - |
Abbreviations: true positive (TP), false positive (FP), positive predictive value (PPV), inter-quartile range (IQR), epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS) and/or electrical status epilepticus in sleep (ESES), epilepsy with myoclonic atonic seizures (EMAS).