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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).
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