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editorial
. 2020 Aug 1;111:107276. doi: 10.1016/j.yebeh.2020.107276

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