Table 3 Neuropathological reassessment of SLC35A2-mutated case

FR-1

c.801C > G

p.Tyr267*

35

12.1

mMCD2, blurred grey-white matter border*

MOGHE

[2]

FR-2

c.634_635delTC

p.Ser212Leufs*9

–

2–22.6

mMCD2, blurred grey-white matter border, increased oligodendrocytes density*

MOGHE

[2]

FR-3

c.886_888delCTC

p.Leu296del

–

22.4

mMCD2, blurred grey-white matter border*

MOGHE

[2]

FR-4

c.804dupA

p.Pro269Thrfs*25

–

32.7

mMCD2, blurred grey-white matter border, increased oligodendrocytes density, white matter pallor*

MOGHE

[2]

FR-5

c.918_929delGCTGTCCACTGT

p.Leu307_Val310del

–

13

FCD unclassified

MOGHE

Unpublished

FR-6

c.287_288delAC

p.His96Profs*7

–

25

Not conclusive (fragmented tissue)

Not conclusive (fragmented tissue)

Unpublished

KR-1

c.703A > C

p.Asn235His

25.8

10

mMCD

MOGHE

[38]

KR-2

c.275-1G > T

–

35

5

Gliosis

MOGHE

[38]

KR-3

c.553C > T

p.Gln185*

35

6

No abnormality

MOGHE

[38]

KR-4

c.760G > T

p.Glu254*

37

15.8

mMCD

MOGHE

[38]

KR-5

c.589C > T

p.Gln197*

36

22.9

mMCD

MOGHE

[38]

KR-6

c.502C > T

p.Gln168*

36

18

mMCD

MOGHE

[38]

KR-7

c.359T > C

p.Leu120Pro

27.4

1.4

Gliosis

MOGHE

[39]

KR-8

c.842G > A

p.Gly281Asp

23.4

3.7

Gliosis

MOGHE

[39]

KR-9

c.671T > C

p.Leu224Pro

27.5

3.7

Gliosis

MOGHE

[39]

KR-10

c.359_360delTC

p.Leu120Hisfs*7

–

5.5

mMCD

MOGHE

Unpublished

NL-1

c.385C > T

p.Gln129*

36

33

mMCD2

MOGHE

Unpublished

NL-2

c.553C > T

p.Gln185*

35

14.5

mMCD2

MOGHE

Unpublished