SCN1A Variant Database

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Published Statistics

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Published SCN1A missense mutations (# patients)

Epilepsy syndrome

Severe

Other

Mild

SMEI, SMEB, Dravet syndromeICEGTC, SIGEI, SIMFE, MAE, MAE&GEFS+IS, LGS, CGE, CFE, SGEGEFS+, FS+, PE&FS+, TLE&FSFHM, PSTotal
C-terminus 11 1 1 5 18
Linkers* 33 2 1 5 4 45
N-terminus 21 1 22
Pore (S5, S6 + linker) 130 9 4 6 1 150
S1, S2, S3 37 2 5 44
S4 (voltage sensor) 21 3 6 2 32
Total253149287311

* S5-S6 linker not included

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.

last updated  22-Jun-11



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