Table 1 Clinical, neuropathological and genetic features of the patient cohort

From: Targeting pathological cells with senolytic drugs reduces seizures in neurodevelopmental mTOR-related epilepsy

Patient ID

Neuropathology

Gene

Mutation; VAF

Age at seizure onset

Age at surgery

Surgical topography

Cases

 1 (FCD-64)

FCDIIb

TSC1

p.E636fs*51; 3.7%

18 m

4 y

Frontal

 2 (FCD-33)

FCDIIa

DEPDC5

2-hit: p.R286* (germline); Q289* (10% somatic)

1.2 y

6.75 y

Frontal

 3 (FCD-56)

FCDIIb

MTOR

p.T1977K; 5.5%

8 m

16.1 y

Fronto-parietal

 4 (FCD-57)

FCDIIb

MTOR

p.S2215F; 1.3%

4.5 m

9.1 y

Temporo-parietal

 5 (FCD-59)

FCDIIb

MTOR

p.S2215F, 3.4%

16 m

13 y

Frontal

 6 (FCD-61)

FCDIIb

MTOR

p.S2215Y; 3.7%

2 m

6.7 y

Parietal

 7 (FCD-70)

FCDIIb

Panel-neg

N/A

2.5 y

16.1 y

Frontal

 8

FCDIIb

MTOR

p.A1459P; 2%

18 m

16.8 y

Frontal

 9

FCDIIb

AKT3

p.E17K; 1%

14 y

42 y

Frontal

 10 (FCD-36)

HME/IIa

DEPDC5

2-hit: c.3021+1 G > A (germline); LOH (somatic)

1d

3 m

Frontala

 11 (HME-73)

HME/IIb

MTOR

p.A1459D; 9.2%

1d

3 m

Frontala

 12 (HME-74)

HME/IIa

AKT3

p.E17K; 12%

5d

1.3 y

Frontala

 13 (HME-77)

HME/IIa

PIK3CA

p.H1047R; 21.2%

15d

6 m

Frontala

 14 (HME-79)

HME/IIb

RHEB

p.Y35L; 17.6%

3d

5 m

Frontala

 21

FCDIIa

MTOR

p.S2215Y; 0.9%

2 m

7 y

Temporal

 22

FCDIIb

MTOR

p.S2215F; 2%

6 m

2.1 y

Fronto-temporal

 23

FCDIIb

MTOR

p.L1460P; 1.4%

5 y

12 y

Frontal

 24

FCDIIb

MTOR

p.S2215Y; 4.8%

6.3 y

10 y

Frontal

 25

FCDIIb

MTOR

p.S2215Y; 1.39%

20 m

8.5 y

Temporal

 26

FCDIIb

MTOR

p.A1459D; 3.45%

13 m

5 y

Fronto-insular

 27 (FCD-65)

FCDIIb

TSC2

p.R1743Q; 1.5%

2 y

4.75 y

Frontal

 28

FCDIIb

TSC2

p.Q404*; 2%

2 m

11 m

Operculo-insular

 29

FCDIIa

AKT3

p.E17K; 7.39%

15d

1.2 y

Frontal

 30

FCDIIb

MTOR

p.A1459D; 1.93%

7 y

18 y

Frontal

Epileptic controls

 15 (FCD-16)

FCDI

Panel-neg

N/A

1.8 y

3.8 y

Temporal

 16 (FCD-13)

mMCD

Panel-neg

N/A

1.7 y

10.5 y

Temporal

 17 (FCD-18)

FCDI

Panel-neg

N/A

2 y

5.4 y

Occipital

 18 (FCD-7)

mMCD

Panel-neg

N/A

5 m

5.7 y

Temporal

 19 (FCD-12)

FCDI

Panel-neg

N/A

13 y

16.5 y

Frontal

 20 (FCD-6)

mMCD

Panel-neg

N/A

2 m

1.9 y

Temporo-parietal

 31 (FCD-17)

FCDI

Panel-neg

N/A

4 m

6 m

Temporal

 32 (FCD-5)

mMCD

Panel-neg

N/A

11 y

14 y

Frontal

 33 (FCD-8)

mMCD

Panel-neg

N/A

2 y

11.7 y

Insula

 34 (FCD-15)

mMCD

Panel-neg

N/A

5 m

6.7 y

Parietal

 35

mMCD

Panel-neg

N/A

8 m

3.9 y

Fronto-insular

 36

mMCD

Panel-neg

N/A

4 y

10 y

Frontal

 37 (FCD-10)

FCDI

Panel-neg

N/A

4 y

9.1 y

Occipital

  1. IDs in parentheses refer to patients previously reported in Baldassari et al.8. LOH, loss of heterozygosity; m, months; mMCD, mild malformation of cortical development with excessive heterotopic neurons; N/A, not applicable; Panel-neg, panel-negative; y, years.
  2. aIndicates cases in which a hemispherotomy (functional disconnection of one hemisphere) was performed. In all other cases, a resection was achieved.
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