Mutation

type

Mutation site

Protein change(segment)

Proband's

phenotype

Transmitter's

phenotype

Affected generations

Affected/Carriers

Genomic rearrangement

dup exon 8-16*

Dup SCN1A

SMEI

FS

2

2/2

del exon 2-4

Del SCN1A

SMEI

FS+

3

5/5

del SCN1A*

Del SCN1A

SMEI

No symptom

4

3/3

del SCN1A*

Del SCN1A

SMEI

No symptom

2

2/2

dup 2q24.3 *

Dup SCN1A,2A,3A

NIE

No symptom

2

1/1

Truncation

c.412_413delAT

I138FfsX11 (DIS1)

SMEI

NA (Paternal)

c.541G>T

E181X(DIS2-S3)

GEFS+

NA

c.865G>C

E289X (DIS5-S6)

SMEI

Partial epilepsy(Maternal)

2

2/2

c.1118delT*

C373fsx378 (DIS5-S6)

SMEI

FS+(Paternal)

2

2/2

c.1537delG*

E513fsX(DI-DII)

SMEI

SMEB(Paternal)

2

1/1

c.1624C>T*

R542X (DI-DII)

SMEI

No symptom(Maternal)

2

2/2

c.1738C>T*

R580X (DI-DII)

SMEI

No symptom(Maternal)

2

2/2

c.2134C>T*

R712X (DI-DII)

SMEI

No symptom(Maternal)

2

1/1

c.2523_2524delGC

T841fsx842 (DIIS3)

SMEI

EP(Paternal)

2

2/2

c.2584C>T

R862X(DIIS4)

GEFS+

NA

c.3878delA*

D1293delfsx1299 (DIIIS3)

SMEI

Single seizure(Paternal)

2

1/1

c.3985C>T*

R1329X (DIIIS4)

SMEI

Migraine(Maternal)

2

2/2

c.4547C>A

S1516X(DIII-DIV linker)

SMEI

NA (Paternal)

c.5240_5241insAA*

N1747fsX33(DIVS5-S6)

SMEI

FS(Maternal)

2

2/2

c.5493delT*

A1831fs25X(C-terminal)

SMEI

IGE(Maternal)

2

2/2

c.5734C>T*

R1912X(C-terminal)

SMEI

No symptom(Paternal)

2

1/1

Splice site

c.265-3C>T

ND (DIS3)

GEFS+

NA (Maternal)

c.602+1G>A*

ND (DIS3)

SMEI

GEFS+(Paternal)

2

2/2

c.965-2A>C*

ND (DIS5-S6)

SMEI

No symptom(Paternal)

2

2/2

c.1377+1G>A*

ND (DI-DII)

SMEI

IGE(Paternal)

2

1/1

c.1378-1G>A

ND (DI-DII)

SMEI

No symptom(Maternal)

2

1/2

c.2177-11dupT

ND(DI-DII)

GEFS+

No symptom

2

c.3550+1G>A*

ND (DII-DIII)

SMEI

No symptom(Maternal)

2

2/2

c.3880-1G>A*

ND(IVS19)

SME

No symptom(Paternal)

c.4581+3A>T

ND (DIVS1)

SMEI

NA (Paternal)

Missense

c.80G>C

R27T (N-terminal)

GEFS+

No symptom(Paternal)

2

1/2

c.133G>A

D45N(N-terminal)

EA with FS+

FS+(Paternal)

2

c.187T>C

F63L (N-terminal)

SMEI

No symptom(PaternaL)

2

1/2

c.203T>C

I68T (N-terminal)

SMEB

NA (Maternal)

c.302G>A*

R101Q(N-terminal)

SMEI

FS+(Maternal)

2

3/3

c.307A>G

S103G(N-terminal)

SMEI

NA(Paternal)

c.317 C>T

S106F(N-terminal)

FE(MCD)

Unclassified EP

2

2/2

c.371T>A*

I124Q (DI S1)

SMEI

IGE(Maternal)

2

1/1

c.434T>C

M145T (DIS1)

PEFS+

FS(Maternal)

≥3

5/5

c.563A>T

D188V (DIS2-S3)

GEFS+

FS+(Paternal)

≥3

8/9

c.568T>C

W190R (DIS3)

SMEI

No symptom(Maternal)

2

1/2

c.571A>T*

N191Y (DIS3)

SMEI

IGE(Paternal)

2

1/1

c.577C > T

L193F (DIS3)

GEFS+

GEFS+(Paternal)

4

9/9

c.580G>A*

D194N (DIS3)

SMEI

GEFS+(Paternal)

2

1/1

c.652T>C

F218L (DIS4)

PEFS+

GEFS+(Paternal&Maternal)

2

5/5

c.715G>A

A239T (DIS4-S5)

SMEB

FS+(Paternal)

≥3

2/2

c.787C>G

L263V (DIS5)

EP+FHM

NA

2

5/5

c.890C>T

T297I (DIS5-S6)

SMEI

No symptom(Maternal)

2

2/2

c.940T>C

W314R (DIS5-S6)

MAE

NA (Maternal)

c.1046A>G

Y349C (DIS5-S6)

SMEI

FS+(Paternal)

2

2/2

c.1066A>G

R356G (DIS5-S6)

SMEB

NA

c.1130G>A

R377Q (DIS5-S6)

GEFS+

NA (Maternal)

c.1162T>C

Y388H (DIS5-S6)

SMEI

GEFS+(Paternal)

≥3

10/10

c.1198A>G

M400V (DIS6)

SMEI

NA (Biparental)

c.1226T>G

L409W(DIS6)

SMEI

NA(Maternal)

c.1234T>A

F412I(DIS6)

SMEB

No symptom(Paternal)

c.1625G>A

R542E (DI-DII)

GEFS+

IGE(Paternal)

2

2/2

c.2284A>G

N762D (DIIS1)

SMEI

NA (Paternal)

c.2369A>G

Y790C (DIIS1-S2)

GEFS+

FS(Paternal)

2

3/3

c.2378C>T

T793M (DIIS1-S2)

SMEI

No symptom(Maternal)

2

1/2

c.2575C>T

R859C (DIIS4)

GEFS+

FS(Paternal)

≥3

7/7

c.2576G>A

R859H(DIIS4)

PEFS+

GEFS+(Paternal)

2

2/2

c.2624C>T

T875M (DIIS4)

PEFS+

FS(Paternal)

≥3

10/10

c.2624C>A

T875K(DIIS4)

SME

NA(Paternal)

c.2626T>A

L876I(DIIS4)

SMEI

NA(Maternal)

c.2696T>C

I899T(DIIS5)

GEFS+

NA

c.2803A>C

N935H((DIIS5-S6)

PEFS+

GEFS+(Paternal)

2

2/2

c.2901G>T

M967I (DIIS6)

GEFS+

FS(Maternal)

≥3

1/2

c.2917A>G

M973V(DIIS6)

CGE

No symptom(Paternal)

2

1/2

c.2928G>A

M976I(DIIS6)

SMEI

FS+(Paternal)

2

3/3

c.3018T>G

D1006E (DIIS6)

unclassified

NA (Maternal)

c.3101T>C

I1034T(DII-DIII)

Autism

No symptom(Paternal)

2

1/2

c.3112T>C

F1038L(DII-DIII)

Autism

No symptom(Paternal)

2

2/3

c.3250A>T

S1084C(DII-DIII)

JME

JME(Paternal)

2

2/2

c.3521C>G

T1174S(DII-DIII)

MAE

No symptom(Maternal)

2

1/2

c.3610T>C

W1204R (DII-DIII)

GEFS+

GEFS+(Paternal)

≥3

5/5

c.3623G>A

R1208K (DIIIS1)

SMEB

NA (Maternal)

c.3688C>T

L1230F (DIIIS1)

GEFS+

NA (Maternal)

c.3748G>C

K1249N(DIIIS1-S2)

GEFS+

NA

c.3749C>T

T1250M(DIIIS1-S2)

GEFS+

NA

c.3809A>C

K1270T (DIIIS2)

PEFS+

GEFS+(Maternal)

≥3

13/14

c.3820T>A

Y1274N(DIIIS4)

GEFS+

NA(Paternal)

c.3924A>T

E1308D(DIIIS3-S4)

FS

NA

c.4057G>C

V1353L (DIIIS5)

PEFS+

Unclassified EP(Maternal)

≥3

8/9

c.4096G>A

V1366I (DIIIS5-S6)

FS+(&myoclonic)

GEFS+(Paternal)

2

1/2

c.4101T>A

N1367K (DIIIS5-S6)

SMEI

IGE(Paternal)

2

1/1

c.4114A>G

K1372E (DIIIS5-S6)

GEFS+

FS+ (Paternal)

≥3

14/17

c.4135G>T

V1379L (DIIIS5-S6)

PEFS+

GEFS+(Maternal)

2

4/4

c.4144G>C

G1382R (DIIIS5-S6)

PEFS+

FS(Maternal)

3

4/5

c.4216G>A 

A1406T (DIIIS5-S6)

SMEI

IGE(Paternal)

2

2/2

c.4240A>G

N1414D (DIIIS5-S6)

GEFS+

NA (Paternal)

c.4267C>T

L1423F (DIIIS5-S6)

SMEI

NA (Maternal)

c.4285G>T

A1429S(DIIIS5-S6)

ADNFLE

ADNFLE(Paternal)

c.4298G>T

G1433V (DIIIS5-S6)

SMEI

NA (Paternal)

c.4351C>A*

P1451T(DIIIS5-S6)

SME

No symptom(Paternal)

2

1/1

c.4371G>C

L1457Leu(DIIIS6)

ADNFLE

ADNFLE(Paternal)

c.4465C>A

Q1489K(DIII-DIV)

FHM

FHM(Maternal)

≥3

13/13

c.4467G>C

Q1489H(DIII-DIV)

FHM + ERDB

FHM(Maternal)

5/5

c.4494C>G

I1498M(DIII-DIV)

FHM

FHM(Paternal)

4

c.4495T>C

F1499L(DIII-DIV)

FHM + ERDB

FHM(Maternal)

3

4/4

c.4541T>C

L1514S(DIII-DIV)

SMEI

IGE(Maternal)

≥3

1/1

c.4628T>C

F1543S (DIVS1)

SIMFE

No symptom

2

1/2

c.4723C>T

R1575C (DIVS2)

SMEI

No symptom(Maternal)

2

1/2

c.4787G>A

R1596H (DIVS2-S3)

GEFS+

NA (Paternal)

c.4831G>T

V1611F (DIVS3)

GEFS+

GEFS+(Maternal)

2

2/2

c.4834G>A

V1612I (DIVS3)

NA

NA (Paternal)

c.4847T>C*

I1616T (DIVS3)

PEFS+

PEFS+(Paternal)

2

1/1

c.4855A>G

M1619V(DIVS3)

IE

NA(Maternal)

c.4888G>A

V1630M (DIVS3-S4)

SMEI

NA

c.4888G>C

V1630L(DIVS3-S4)

SMEB

NA(Maternal)

c.4943G>A

R1648H (DIVS4)

PEFS+

NA

≥3

5/5

c.4946T>A

L1649Q(DIVS4)

FHM

FHM(Paternal)

4

6/6

c.4968C>G

I1656M (DIVS4)

GEFS+

FS+(Maternal)

2

4/4

c.4969C>T

R1657C(DIVS4)

SME

FS(Maternal)

≥3

4/4

c.4973C>G

T1658R(DIVS4-S5)

SMEI

NA(Maternal)

c.4973C>T

T1658M (DIVS4-S5)

SMEI

NA(Maternal)

c.4981C>T

F1661L(DIVS4-S5)

FHM

FHM(Maternal)

3

5/5

c.4991T>A

M1664K (DIVS4-S5)

SMEI

FS(Maternal)

≥3

4/4

c.5002C>G

P1668A (DIVS5)

SMEI

No symptom(Maternal)

2

2/3

c.5003C>G*

P1668R(DIVS4-S5)

SME

FS(Maternal)

2

1/1

c.5045T>C

F1682S (DIVS5)

SMEI

FS(Paternal)

2

2/2

c.5047A>T

I1683F (DIVS5)

unclassified

NA (Maternal)

c.5054C>T

A1685V (DIVS5)

PEFS+

PEFS+(Paternal)

≥3

5/5

c.5060T>C

F1687S (DIVS5)

SMEB

NA

c.5126C>T

T1709I (DIVS5-S6)

SMEB

GEFS(Maternal)

2

2/2

c.5138G>A

S1713N (DIVS5-S6)

SMEI

FS(Paternal)

2

3/3

c.5216C>T

P1739L (DIVS5-S6)

GEFS+

NA (Paternal)

c.5225A>G

D1742G(DIVS5-S6)

PEFS+

FS+(Paternal)

3

4/4

c.5346C>G*

I1782M (DIVS6)

SMEI

SEHT(Paternal)

2

1/1

c.5347G>A*

A1783T(DIVS6)

SMEI

GEFS+(Maternal)

2

1/1

c.5383G>A

E1795K(DIVS6)

GEFS+

GEFS+(Paternal)

2

5/5

c.5555T>C

M1852T (C-terminal)

SMEI

FS+(Paternal)

2

5/5

c.5569G>T

V1857L (C-terminal)

GEFS+

FS(Paternal)

2

2/2

c.5596A>T

D1866Y (C-terminal)

GEFS+

GEFS+(Maternal)

≥3

4/4

c.5600T>C

I1867T (C-terminal)

PEFS+

NA

≥3

5/6

c.5768A>G*

Q1923R (C-terminal)

PEFS+

FS(Paternal)

2

3/3

c.5779A>G

R1927G (C-terminal)

GEFS+

GEFS+(Paternal)

2

2/2

c.5864T>C

I1955T (C-terminal)

GEFS+

No symptom (Paternal)

2

1/2

c.5962C>T

R1988W(C-terminal)

EA with FS+

EA with FS(Paternal)

3

3/3

c.*1794C>T

3'UTR

SMEI

No symptom(Maternal)

1/2