Legend: CFE: cryptogenic focal epilepsy; CGE: cryptogenic generalized epilepsy; FHM: familial hemiplegic migraine; FS: febrile seizures; FS+: febrile seizures plus; GEFS+: generalized epilepsy with febrile seizures plus; ICEGTC: intractable childhood epilepsy with generalized tonic-clonic seizures; IS: infantile spasms; LGS: Lennox-Gastaut syndrome; MAE: myoclonic-astatic epilepsy; PE: partial epilepsy; PS: Panayiotopoulos syndrome; SIGEI: severe idiopathic generalized epilepsy of infancy; SIMFE: severe infantile multifocal epilepsy; SMEI: severe myoclonic epilepsy of infancy; SMEB: borderline SMEI; TLE: temporal lobe epilepsy.
Overview of published SCN1A mutations (# patients)
| Epilepsy syndrome | Severe |
Other |
Mild |
|||
|---|---|---|---|---|---|---|
| SMEI, SMEB, Dravet syndrome | ICEGTC, SIGEI, SIMFE, MAE, MAE&GEFS+ | IS, LGS, CGE, CFE, SGE | GEFS+, FS+, PE&FS+, TLE&FS | FHM, PS | Total | |
| Point Mutations | ||||||
| translation initiation mutation | 1 | 1 | ||||
| splice donor mutation | 42 | 1 | 1 | 1 | 45 | |
| splice acceptor mutation | 23 | 23 | ||||
| silent mutation | 2 | 2 | ||||
| nonsense mutation | 141 | 141 | ||||
| missense mutation | 253 | 14 | 9 | 28 | 7 | 311 |
| in-frame deletion mutation | 14 | 14 | ||||
| frameshift mutation | 121 | 3 | 1 | 0 | 125 | |
| complex mutation | 1 | 1 | 2 | |||
| Total | 598 | 19 | 11 | 29 | 7 | 664 |
| Genomic rearrangments | ||||||
| translocation | 1 | 1 | ||||
| partial/whole gene duplication mutation | 2 | 1 | 3 | |||
| partial/whole gene deletion mutation | 42 | 42 | ||||
| partial/whole gene amplification mutation | 1 | 1 | ||||
| Total | 46 | 0 | 1 | 0 | 0 | 47 |
| Total SCN1A mutations | 644 | 19 | 12 | 29 | 7 | 711 |
last updated 22-Jun-11