Prevalence of the different channelepsy phenotypes as well as other neurological disorders associated with defects in SCN1A.
Note: These statistics are based on all data on this web site excluding the mutations listed under "New".
| N = | |||
| SMEI & derivatives | |||
| SMEI (severe myoclonic epilepsy in infancy, Dravet’s syndrome) | 257 | (71.6 %) | |
| SMEB (SMEI-borderland) | 17 | (4.7 %) | |
| SMEB-M (SMEB without myoclonus) | 3 | (0.8 %) | |
| SMEB-SW (SMEB without generalized spike-wave) | 11 | (3.1 %) | |
| SMEB-O (SMEB lacking more than one typical SMEI characteristic) | 10 | (2.8 %) | |
| ICEGTC (intractable childhood epilepsy with generalized tonic-clonic seizures) | 9 | (2.5 %) | |
| aSMEI (atypical SMEI) | 2 | (0.6 %) | |
| Subtotal | 302 | (86.1 %) | |
| GEFS+ & derivatives | |||
| GEFS+ (generalized epilepsy with febrile seizures, plus) | 21 | (5.8 %) | |
| FS (febrile seizures) | 3 | (0.8 %) | |
| Subtotal | 24 | (6.7 %) | |
| Other epileptic disorders | |||
| CGE (cryptogenic generalized epilepsy) | 7 | (1.9 %) | |
| CFE (cryptogenic focal epilepsy) | 4 | (1.1 %) | |
| MAE (myoclonic astatic epilepsy, Doose syndrome) | 3 | (0.8 %) | |
| SIGEI (severe idiopathic generalized epilepsy of infancy) | 2 | (0.6 %) | |
| RE (Rasmussen’s encephalitis) | 1 | (0.3 %) | |
| IS (infantile spasms, West syndrome) | 1 | (0.3 %) | |
| LGS (Lennox-Gastaut syndrome) | 1 | (0.3 %) | |
| Subtotal | 19 | (5.3 %) | |
| Non-epileptic disorders | |||
| FA (familial autism) | 3 | (0.8 %) | |
| FHM (familial hemiplegic migraine) | 3 | (0.8 %) | |
| PS (Panayiotopoulos syndrome) | 1 | (0.3 %) | |
| Subtotal | 7 | (1.9 %) |
Percentages were based on N = 359, which is the total number of different phenotypes reported for the listed variants. Some variants are listed with more than one phenotype owing to differing diagnoses between publications.