Table 1. SCN1A mutations in patients with SMEI

Patient IDMutationInheritance
Location in SCN1ADNA changeLocation in proteinProtein change
* One parent analyzed.
† No parent analyzed.
c = Coding; SMEI = severe myoclonic epilepsy of infancy.
01201Exon 1c234G→TN-terminalE78DDe novo
smei48Exon 1c249C→GN-terminalY83XDe novo
smei42Exon 2c383C→AN-terminalS128XDe novo
01181Exon 4c495T→ADI S2Y165XDe novo
29521Exon 4c530G→ADI S2–S3 linkerG177EDe novo
smei22Exon 5c664C→TDI S4R222XDe novo
s880Exon 5c664C→TDI S4R222XNot determined*
smei23Exon 5c680T→GDI S4I227SNot determined*
30676Exon 5c680T→GDI S4I227SDe novo
01206Exon 5c680T→GDI S4I227SDe novo
01242Exon 6c838T→CDI S5–S6 linkerW280RDe novo
01233Exon 6c853–856delCTTCDI S5–S6 linkerA285fsX290De novo
01251Exon 6c865G→CDI S5–S6 linkerE289XMaternal
smei6Exon 6c890C→TDI S5–S6 linkerT297IMaternal
smei12Exon 8c1121delCDI S5–S6 poreS374fsX378De novo
smei40Exon 8c1165C→TDI S5–S6 linkerQ389XNot determined
01292Exon 9c1276T→ADI–DII linkerY426NDe novo
01285Exon 16c3195–3196delTADII–DIII linkerH1065fsX1073De novo
01284Exon 18c3643–3644insTADII–DIII linkerV1215XNot determined
smei17Exon 18c3697G→CDIII S1G1233RNot determined
Q.A.Intron 18IVS18 + 1G→TDIII S1L1235fsX1243De novo
01258Exon 19c3733C→TDIII S1R1245XDe novo
26954Exon 19c3733C→TDIII S1R1245XDe novo
27310Intron 22IVS22-1G→TDIII S5–S6 linkerΔ1447–1492De novo
30925Exon 23c4381C→ADIII S5–S6 linkerL14611De novo
smei26Exon 23c4388T→CDIII S5–S6 linkerF1463SDe novo
24833Exon 26c4884T→ADIV S3Y1628XDe novo
S356Exon 26c5002C→GDIV S4P1668AMaternal
01301Exon 26c5339T→CDIV S6M1780TDe novo
01254Exon 26c5414–5415delTTDIV S6F1805XDe novo
24679Exon 26c5436–5444delGGAGAAGTTDIV S6W1812C; Δ1813–1815EFKDe novo
Z.B.Exon 26c5657delGC-terminalR1886fsX1910De novo
smei21Exon 26c5668delGC-terminalE1890fsX1910De novo