Published SCN1A missense 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
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
Total	253	14	9	28	7	311

* 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

SCN1A Variant Database

Published Statistics

Published SCN1A missense mutations (# patients)

Severe

Other

Mild