Table 2 Somatic and germline variants in FCD type I and III, HME, and the other pathological types in this study

FCD type I

F26

AKT3

c.49G > A p.(Glu17Lys)

WES

DS

0

4.9

Somatic

Reported

F32

BRAF

c.1799T > A p.(Val600Glu)

TS

DS

0.3^a

7.5

Somatic

Reported

F45

SLC35A2

c.844G > A p.(Gly282Arg)

WES

DS

0.1^a

5.4

Somatic

Novel

F48

MAP2K1

c.173_187del p.(Gln58_Glu62del)

TS

DS

0

0.8

Somatic

Novel

F67

PTPN11

c.178G > C p.(Gly60Arg)

WES

DS

0.1^a

2.3

Somatic

Novel

Malformation of cortical development

F29

MTOR

c.4379T > C p.(Leu1460Pro)

WES

ddPCR

0

2.3

Somatic

Reported

FCD type IIIb (Ganglioglioma and FCD type IA)

F39

BRAF

c.1799T > A p.(Val600Glu)

TS

DS

0

0, 29.1

Somatic

Reported

Ganglioglioma

F70

TSC1

chr 9 del

WES

CMA

0

15–20

Somatic

Reported

Hippocampal sclerosis

F30

–

19p13.3p12 del

CMA

ddPCR

0

20

Somatic

Novel

No remarkable change (insufficient sample volume)

F63

NPRL3

c.1270C > T p.(Arg424*)

TS

Sanger

NA

NA

Germline

Reported

Hemimegalencephaly

M28

PIK3CA

c.1624G > A p.(Glu542Lys)

TS

DS

0.2^a

21.7, 34.9

Somatic

Reported

M29

PIK3CA

c.1624G > A p.(Glu542Lys)

TS

DS

0

27.2

Somatic

Reported

M30

MTOR

c.6644C > T p.(Ser2215Phe)

TS

ddPCR

0.016^a

16.28

Somatic

Reported

M44

MTOR

c.4348T > G p.(Tyr1450Asp)

TS

DS

NA

4.2–6.2

Somatic

Reported

M52

PIK3CA

c.1633G > A p.(Glu545Lys)

TS

DS

NA

11.3

Somatic

Reported

M53

PIK3CA

c.3140A > G p.(His1047Arg)

TS

DS

0

16.8, 22.3 (brain) 15.2 (lipoma)

Somatic

Reported

M54

AKT3

c.49G > A p.(Glu17Lys)

TS

DS

0

1.1

Somatic

Reported

M55

PIK3CA

c.1624G > A p.(Glu542Lys)

TS

DS

0

25.4

Somatic

Reported

M56

PIK3CA

c.1633G > A p.(Glu545Lys)

Sanger

DS

0

7.1–14.6 (brain), 14.3 (skin)

Somatic

Reported