Table 1.
Clinical and Neuropathological Findings in 16 Patients with Focal Cortical Dysplasia Type II and 3 Patients with TSC Included in the Present Study
| ID | Sex | Age at Surgery, yr | Site of Surgery | ILAE | Age at Seizure Onset, yr | Seizure Frequency per Daya | Type of Seizure | Engelb | mTOR Mutations, Gene; Position; Allelic Frequency in Brain Tissue |
|---|---|---|---|---|---|---|---|---|---|
| P1 | M | 40 | T P O/R | IIb | 6 | 4–5 | CFS/SFS/GTC | I | Nothing found |
| P2 | M | 26 | T/L | IIa | 7 | 1 | SFS/CFS | I | Nothing found |
| P3 | M | 6 | T O/R | IIb | 0 | 6 | CFS/GTC | IV | NP |
| P4 | F | 33 | O/R | IIb | 8 | 4–5 | CFS/GTC | I | Nothing found |
| P5 | M | 52 | Fr/R | IIb | 18 | 4–5 | SFS/CFS/GTC | I | NP |
| P6 | M | 3 | Fr P/L | IIb | 0 | 7–8 | CFS | I | NP |
| P7 | M | 15 | Fr/L | IIb | 4 | 30 | SFS/GTC | II | NP |
| P8 | M | 10 | Fr P/R | IIa | 6 | 20 | CFS/SFS/GTC | IV | NP |
| P9 | M | 9 | Fr/R | IIb | 0 | 15–20 | CFS | I | NP |
| P10 | F | 15 | Fr/L | IIa | 4 | 10–15 | CFS/SFS/GTC | II | NP |
| P11 | M | 12 | Fr/L | IIa | 2 | 6 | SFS/CFS/GTC | IV | NP |
| P13 | M | 29 | Fr/R | IIa | 4 | 3 | GTC | IV | Nothing found |
| P15 | F | 23 | Fr/R | IIa | 9 | 1 | CFS/GTC | IV | NP |
| P16 | M | 18 | Fr/L | IIb | 0 | 3 | CFS/GTC | I | Nothing found |
| P20 | M | 32 | Fr/L | IIb | 3 | 1 | CFS | I | MTOR; c.4379T>C; 1.8% |
| P21 | F | 21 | Fr/L | IIb | 11 | 2–3 | CFS | II | TSC2; c.3781G>A; 1.7% and AKT1; c.349_351del; 2.2% |
| P14 | F | 29 | Fr/R | TSC | 7 | 1 | SFS/CFS/GTC | II | Nothing found |
| P22 | M | 1 | Fr/R | TSC | 0 | 20‐30 | CFS/GTC | II | NP |
| P23 | F | 4 | Fr/R | TSC | 4 | 10 | CFS/GTC | I | NP |
We used fresh‐frozen tissue specimens in P1–P4, P13–P16, and P20–P23 and formalin‐fixed paraffin‐embedded tissue specimens in patients P5–P11.
a
Seizure frequency before surgery.
b
Engel classification scale for surgical outcome.
CFS = complex focal seizures; F = female; Fr = frontal; GTC = generalized tonic–clonic seizures; ILAE = International League against Epilepsy; L = left; M = male; NP = deep sequencing was not performed; O = occipital; P = parietal; R = right; SFS = simple focal seizures; T = temporal; TSC = tuberous sclerosis complex.