Table 1.
Rare Epilepsy Network (REN) registry by rare syndrome and number of patients participating in the registry.
Syndrome | No. | Syndrome | No. |
---|---|---|---|
Aicardi syndrome | 100 | Ohtahara syndrome | 18 |
Angelman syndrome | 5 | PCDH19 female epilepsy | 41 |
Batten disease | 3 | Phelan–McDermid syndrome | 43 |
CDKL5 disorder | 32 | Progressive myoclonic epilepsy (PME) | 8 |
Congenital bilateral perisylvian syndrome | 2 | RAS pathway disorders | 1 |
CSWS/ESES | 17 | Rasmussen's encephalopathy | 5 |
Doose syndrome | 76 | Rett syndrome | 1 |
Dravet syndrome | 177 | Ring 14 syndrome | 8 |
Dup15q syndrome | 62 | Ring 20 syndrome | 4 |
Early myoclonic encephalopathy | 1 | Severe myoclonic epilepsy of infancy | 7 |
Glut1 deficiency | 4 | SCN2A mutation | 4 |
Hypothalamic hamartomas | 91 | SCN8A mutation | 25 |
Infantile spasms/West syndrome | 67 | SLC13A5 mutation | 3 |
Jeavon's syndrome | 9 | Sturge Weber syndrome | 1 |
KCNQ2 mutation | 9 | SYNGAP1 mutation | 18 |
Landau–Kleffner syndrome | 10 | Tuberous sclerosis complex | 256 |
Lennox–Gastaut syndrome | 207 | Unverricht-Lundborg syndrome | 3 |
Lissencephaly | 4 | Encephalopathy with seizures and major delay in development | 23 |
MERFF | 3 | Other mutation associated with seizures | 110 |
Mitochondrial disorders (Alper's disease, Leigh's disease) | 1 | Total | 1459 |