TABLE 2.
Recommended keyword list includes the optimal statistical combination of keywords plus additional clinically important words in italics
| Rare Epilepsy | Specific ICD-10 code available | Recommended keyword list |
|---|---|---|
| Aicardi syndrome | No | Aicardi’s syndrome, Aicardi, Aicardi’s, retinal lacunae |
| Alpers disease | Yes | Alpers Disease, Alpers syndrome, Alpers-Huttenlocher, Alpers-Huttenlocher syndrome |
| Angelman syndrome | Yes | Angelman’s Syndrome, 15q11, Angelman syndrome |
| CDKL5 | Yes | x-linked infantile spasm, CDKL5 |
| Dravet syndrome | Yes | GABRD, severe myoclonic epilepsy of infancy, SMEB, Dravet |
| Dup15q syndrome | No | idic 15, dup15q syndrome, dup15q, 15q11 duplication, 15q11 microduplication, duplication of 15q, duplication 15q, 15q11.2 |
| Early infantile developmental and epileptic encephalopathy | No | Ohtahara, early infantile developmental epileptic encephalopathy, EIDEE, early infantile epileptic encephalopathy, EIEE |
| EE-SWAS/ESES | Yes | electrographic status epilepticus in sleep, electrical status epilepticus of sleep, eses index, continuous slow spike and wave of sleep, spike-index, acquired epilep, continuous spike-wave in sleep, electrographic status epilepticus of sleep, epileptic aphasia, ESES with language regression, LK syndrome, LKS, epileptic encephalopathy with spike-and-wave activation in sleep, epileptic encephalopathy with spike and wave activation in sleep, EE-SWAS, EESWAS |
| EMAS | No | Doose, myoclonic-astatic epilepsy, myoclonic atonic epilepsy, Doose syndrome, myoclonic astatic, EMAS, epilepsy with myoclonic atonic seizures |
| Epilepsy in infancy with migrating focal seizures | No | KCNT1, malignant migrating partial seizures in infancy, migrating partial epilepsy of infancy, MMPSI, migrating partial, epilepsy in infancy with migrating focal seizures, EIMFS |
| Glut1 deficiency | Yes | dystonia 9, glucose transporter type 1 deficiency, glut-1 deficiency syndrome, SLC2A1, SLC2A1 mutation, glut1, glut 1 |
| Holoprosencephaly | Yes | semilobar, holoprosencephaly |
| Hypothalamic hamartoma with seizures | No | hypothalamic hamartoma, gelastic epilepsy, gelastic seizures |
| Infantile Spasms | Yes | jacknife, hypsarrhythmia, hyps, infantile spasm |
| KCNQ2 related epilepsy | No | fifth day fits, familial neonatal seizures, early infantile epileptic encephalopathy, benign neonatal epilepsy, benign familial neonatal seizures, KCNQ2 |
| Lennox-Gastaut syndrome | Yes | lennox syndrome, lennox gastaut, slow spike-wave, slow spike and wave |
| Myoclonic epilepsy with ragged red fibers | Yes | MERRF syndrome, MERRF |
| Neuronal ceroid lipofuscinosis | Yes | Batten’s disease, batten disease, LINCL, NCL |
| PCDH19 | No | EFMR, PCDH19 |
| Phelan-McDermid syndrome | No | Phelan-McDermid Syndrome, 22q13 deletion, Phelan-McDermid, 22q13 |
| Prader Willi syndrome | Yes | Prader Willi Syndrome, Prader Willi |
| Rasmussen syndrome | No | Rasmussen’s encephalitis, Rasmussen’s syndrome, Rasmussen |
| Rett syndrome | Yes | Rett’s disease, Rett’s, Rett syndrome |
| Ring Chromosome 14 | No | ring 14, ring chromosome 14 |
| Ring Chromosome 20 | No | ring chromosome 20 syndrome, ring 20, ring chromosome 20 |
| SCN2A | No | SCN2A, SCN2A mutations |
| SCN8A | No | SCN8A |
| Sturge-Weber syndrome | No | Sturge Weber Syndrome, Sturge-Weber Syndrome, Sturge Weber, Sturge-Weber |
| Tuberous sclerosis complex | Yes | TSC, tuberous sclerosis complex, TSC1, TSC2, multifocal micronodular pneumocyte hyperplasia, radial migration lines, tuberous sclerosis |
Abbreviations: 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).