Table 5 Clinical features in OS, WS, LGS, Doose, GLUT1-DS, Rett, TSC, UEE and UE patients

55

M/54d

OS

1d

FoS, Tonic spasms

BS, FSW

Normal

Yes

KCNQ2

c.794C > T

p.A265V

De novo

P

93

M/40d

OS

3d

Tonic spasms

BS

Normal

Yes

SCN2A

c.4712T > C

p.I1571T

De novo

LP

90

M/2y11m

OS-WS

17d

Tonic spasms, Spa.

BS, Hypsarrhy.

Normal

Yes

STXBP1

c.364C > T

p.R122X

Unknown

P

52

F/1y8m

WS

2m

Spa.

Multi. FD, Hypsarrhy.

Cerebral dysplasia

Yes

ADSL

c.253C > T

p.R85X

Maternal

LP

ADSL

c.71C > T

p.P24L

Paternal

UC

89

F/1y11m

WS

19d

FoS, Spa.

Multi. FD, Hypsarrhy.

Subdural hemorrhage

Yes

KCNT1

c.862G > A

p.G288S

De novo

P

104

F/2y10m

WS

3m7d

Spa.

Hypsarrhy., Multi.FD

Normal

Yes

CDKL5

c.265delT

p.F89Lfs*24

De novo

P

151

F/9m

WS

3m

Spa.

Hypsarrhy., Multi. FD

Enlargement of the subarachnoid space

Yes

STXBP1

c.748C > T

p.Q250X

De novo

P

29

M/5y6m

Doose

1y3m

Myo-At., Myo, aAb

Abnormal background theta, GSW, GPSW

Normal

No

SYNGAP1

c.274_277del

p.G92fs

De novo

P

164

F/6y

GLUT1-DS

2y4m

GTCS

FSW, Multi. FD

Nonspecific (Hair loss leads to bald)

No

SLC2A1

c.296T > G

p.M99R

De novo

LP

30

F/4y4m

Rett

3y2m

Fos (I), FBTC

Multi. FD

Normal

Yes

MECP2

c.799C > T

p.R267X

De novo

P

32

M/8y

TSC

1y6m

FoS (I), FBTC

Multi. FD

Multi nodules

No

TSC2

c.2666C > T

p.A889V

Paternal

LP

94

F/9m

TSC (WS)

3m

Spa.

Multi. FD, Hypsarrhy.

Multi nodules

Yes

TSC2

c.3412C > T

p.R1138X

De novo

P

TSC2

c.3598C > T

p.R1200W

De novo

P

98

M/3y

TSC (WS)

4m

Spa., aAb

Multi. FD, Hypsarrhy.

Nonspecific

Yes

TSC2

c.5079C > G

p.Y1693X

Paternal

LP

TSC2

c.5077delT

p.Y1693fs

Paternal

LP

7

M/2y

UEE (EIEE13)

6m

FoS (I), FBTC

Multi. FD

Enlargement of the subarachnoid space

Yes

SCN8A

c.4324G > A

p.E1442K

Paternal

LP

IQSEC2

c.4246_4247insG

p.S1416fs

De novo

P

63

M/4y

UEE (EIEE42)

5m

FoS, GTCS

Multi. FD

Normal

Yes

CACNA1A

c.301G > C

p.E101Q

De novo

P

66

M/1y9m

UEE (EIEE13)

4m

FBTC, FoS

Multi. FD

Enlargement of the subarachnoid space

Yes

SCN8A

c.5492G > A

p.R1831Q

De novo

P

69

F/2y1m

UEE (EIEE9)

1y3m

FBTC, C, T

Multi. FD

Normal

Yes

PCDH19

c.2849-1G > −

splicing

Unknown

LP

157

F/2y

UEE (EIEE43)

2m

C, FoS (I)

FSW

Normal

Yes

GABRB3

c.761C > T

p.S254F

De novo

P

160

M/6y

UEE (EIEE19)

6m

FoS (I), GTCS

FSW

Normal

Yes

GABRA1

c.641G > A

p.R214H

De novo

P

54

F/7y

UEE (EEOC)

4y2m

SE, GTCS, FoS (I)

Mult. FD

Normal

Yes

CHD2

c.3640G > T

p.G1214X

De novo

P

40

F/2y11m

UE

4m

FoS

FSW

Normal

No

VRK2

c.C256 + 1G > A

splicing

Unknown

LP

44

F/5y6m

UE

4y

FoS (automatisms, emotional)

Multi. FD

Nodules in internal side of left anterior limb of internal capsule; caput of caudate nucleus or heterotopic gray matter

Yes

ATP1A2

c.1097G > T

p.G366V

De novo

LP

68

M/6y

UE

4y

FoS (A)

FSW

Normal

No

TSC1

c.2768_2769insC

p.L924Ffs*26

De novo

P

79

M/3y

UE

1y2m

FoS (I), FBTC

Multi. FD

Normal

Yes

SLC9A6

c.582_595del

p.Y194fs

De novo

P