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Patient/ Sex/Age ( years )
Sample
Brain Region
Mutation
Mutation Location
Epilepsy duration ( years )
AED time surgery
ID/ASD
1/F/13
CT
F
TSC2
TSC-2 exon 15-26: c.[3232ins- CACG;1600-75_3232dup13997]
13
LTG, CBZ, CLB
severe/ yes
2/M/8
CT
F
TSC1
c.2074A>G
8
LTG, CLB, TPM
mild/ yes
3/M/32
CTa
T
TSC2
TSC-2 exon 16: c.1839+1G>T
30
PHB, MDZ, LEV
mild/na
4/F/21
CTa
F
TSC1
c.2227C>T
15
VPA
mild/ yes
5/M/0.9
CT
T
TSC1
TSC-1 exon 21: c.2698C>T
0.8
CBZ, VPA, VGB
mild/no
6/F/10
CT
F
TSC2
c.2721delTinsAG
10
OXC, LTG
mild/no
7/M/47
CT
T
TSC2
c.4909_4911delAAG
35
CBZ, CLB
mild/ yes
8/M/3
CT
F
TSC2
c.3952_3961del10
2
VGB, CBZ, VPA
mild/ yes
9/M/10
CT
F
TSC2
c.1716+1G>A
8
VPA, CLB
severe/ yes
10/F/1
CT
F
TSC2
c.4645C>T
1
VGB
severe/ yes
11/F/8
CT
F
TSC1
c.1271_1277delGAATGGAinsAT
8
VGB, CBZ, VPA
mild/ yes
12/M/3
CT
T
TSC2
c.4174C>T (p.Gln1392X)
3
VGB, LTG, CLB
severe/ yes
13/F/0.9
AC
T
-
-
-
-
-
14/F/10
AC
F
-
-
-
-
-
15/F/2.5
AC
F
-
-
-
-
-
16/F/2
AC
F
-
-
-
-
-
17/M/15
AC
F
-
-
-
-
-
18/F/1
AC
T
-
-
-
-
-
19/M/10
AC
F
-
-
-
-
-
20/F/17
AC
T
-
-
-
-
-
21/F/39
AC
F
-
-
-
-
-
22/F/44
AC
F
-
-
-
-
-
three
50
Table 1 Summary of clinical characteristics of human specimens.
Specimens used for: NGS analysis; real-time PCR and in situ hybridization. CT, cortical tuber sur- gery; CTa, cortical tuber autopsy; AC, autopsy control; F: frontal; T: temporal; ID: intellectual dis- ability; ASD: autism spectrum disorder; na: information not available; AED (antiepileptic drugs): CBZ (carbamazepine), CLB (clobazam), LTG (lamotrigine), LEV (levetiracetam), MDZ (midaz- olam), OXC (oxcarbazepine), PHB (phenobarbital), VGB (vigabatrin) ), VPA (valproic acid).