Table 2.
Clinical data summary of panel-positive cases
| Entire cohort (80 cases) |
MTOR (20 cases) |
AKT3 (3 cases) |
PIK3CA (4 cases) |
RHEB (2 cases) |
TSC1/2 somatic (4 cases) |
DEPDC5/TSC Germline (6 cases) |
SLC35A2 (4 cases) |
|
|---|---|---|---|---|---|---|---|---|
| Demographic data | ||||||||
| Mean age at seizure onset (range) | 1.7 y (1 d–13 y) | 1.2 y (1 d–10 y) | 2 m (1 d–6 m) | 10 d (2 d–1 m) | 3 m (3d–6 m) | 1.5 y (1.2–2 y) | 1.9 y (1 d–6 y) | 1.25 y (5 m–2.5 y) |
| Mean duration of epilepsy (range) | 4.7 y (2 m–15 y) | 5.9 y (3 m–15 y) | 2 y (4 m–4 y) | 7 m (2 m–1 y) | 11 m (5 m–1.5y) | 2 y (1 y–2.7 y) | 7.4 y (3 m–12.8 y) | 4 y (1.5 y–5.6 y) |
| Seizure frequency: daily | 69 (86.25%) | 17 (85%) | 3 (100%) | 4 (100%) | 1 (50%) | 4 (100%) | 3 (50%) | 4 (100%) |
| Seizure frequency: weekly | 11 (13.75%) | 3 (15%) | 0 | 0 | 1 (50%) | 0 | 3 (50%) | 0 |
| History of focal seizures exclusively | 61 (76.25%) | 16 (80%) | 3 (100%) | 2 (50%) | 2 (100%) | 3 (75%) | 6 (100%) | 0 |
| History of infantile spasm exclusively | 11 (13.75%) | 3 (15%) | 0 | 0 | 0 | 1 (25%) | 0 | 4 (100%) |
| History of focal seizures and infantile spasm | 8 (10%) | 1 (5%) | 0 | 2 (50%) | 0 | 0 | 0 | 0 |
| Sleep and wake seizures | 57 (71.25%) | 14 (70%) | 1 (33.3%) | 3 (75%) | 1 (50%) | 2 (50%) | 4 (66.7%) | 3 (75%) |
| Sleep seizures only | 17 (21.25%) | 5 (25%) | 1 (33.3%) | 0 | 0 | 2 (50%) | 2 (33.3%) | 0 |
| Normal 3 T MRI | 4 (5%) | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| PET hypometabolism | 30/31 (97%) | 7/7 (100%) | N/A | N/A | N/A | 1/1 (100%) | 4/4 (100%) | 1/1 (100%) |
| Normal neurological examination | 54 (67.5%) | 11 (55%) | 1 (33.3%) | 0 | 0 | 4 (100%) | 5 (83.3%) | 4 (100%) |
| Normal neuropsychological examination | 30 (37.5%) | 6 (30%) | 0 | 0 | 0 | 3 (75%) | 5 (83.3%) | 0 |
| Mild developmental delay | 29 (36.25%) | 10 (50%) | 1 (33.3%) | 1 (25%) | 0 | 1 (25%) | 0 | 2 (50%) |
| Moderate developmental delay | 15 (18.75%) | 3 (15%) | 2 (66.7%) | 3 (75%) | 1 (50%) | 0 | 1 (16.7%) | 1 (25%) |
| Severe developmental delay | 6 (7.5%) | 1 (5%) | 0 | 0 | 1 (50%) | 0 | 0 | 1 (25%) |
| Epilepsy surgery | ||||||||
| Mean age at surgery (range) | 6.4 y (3 m–16.7 y) | 7.2 y (3 m–16.1 y) | 2.1 y (4 m–1.3) | 8 m (3.6 m–1.1 y) | 1.2 y (5 m–2 y) | 3.4 y (2.4 y–4.8 y) | 9.3 y (3 m–15.1 y) | 5.2 y (3 y–8 y) |
| Mean follow-up duration (range) | 2.5 y (7.3 m–3.9 y) | 2.5 y (8.4 m–3.9 y) | 2.7 y (2 y–3.9 y) | 2.2 y (1.4 y–3.2 y) | 2.6 y (1.8 y–3.4 y) | 2.8 y (1.1 y–3.5 y) | 2.3 y (1.1 y–3.9 y) | 2.6 y (1.3 y–3.9 y) |
| Multiple surgeries | 26 (32.5%) | 9 (45%) | 2 (66.7%) | 0 | 1 (50%) | 0 | 2 (33.3%) | 2 (50%) |
| Frontal resection | 30 (37.5%) | 5 (25%) | 1 (33.3%) | 0 | 0 | 3 (75%) | 3 (50%) | 2 (50%) |
| Parietal resection | 6 (7.5%) | 3 (15%) | 0 (0%) | 0 | 0 | 0 | 0 | 0 |
| Temporal resection | 9 (11.25%) | 1 (5%) | 0 (0%) | 0 | 0 | 0 | 0 | 0 |
| Monolobar resection | 50 (62.5%) | 9 (45%) | 1 (33.3%) | 0 | 0 | 3 (75%) | 0 | 2 (50%) |
| Multilobar resections | 17 (21.25%) | 9 (45%) | 0 | 0 | 0 | 1 (25%) | 1 (16.7%) | 2 (50%) |
| Hemispherotomy | 13 (16.25%) | 21 (10%) | 2 (66.7%) | 4 (100%) | 2 (100%) | 0 | 1 (16.7%) | 0 |
| Surgical outcome Engel class 1 | 55 (68.75%) | 14 (70%) | 2 (66.7%) | 4 (100%) | 2 (100%) | 4 (100%) | 3 (50%) | 3 (75%) |
| Surgical outcome Engel class 2 | 6 (7.5%) | 0 | 0 | 0 | 0 | 0 | 1 (16.7%) | 0 |
| Surgical outcome Engel class 3 | 14 (17.5%) | 6 (30%) | 0 | 0 | 0 | 0 | 2 (33.3%) | 0 |
| Surgical outcome Engel class 4 | 5 (6.25%) | 0 | 1 (33.3%) | 0 | 0 | 0 | 0 | 1 (25%) |
| Neuropathology | ||||||||
| mMCD2 | 11 (13.75%) | 0 | 0 | 0 | 0 | 0 | 0 | 4 (100%) |
| FCD1 | 7 (8.75%) | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| FCD2a | 35 (43.75%) | 11 (55%) | 2 (66.7%) | 0 | 0 | 0 | 6 (100%) | 0 |
| FCD2b | 19 (23.75%) | 8 (40%) | 0 | 0 | 1 (50%) | 4 (100%) | 0 | 0 |
| HME/FCD2 | 8 (10%) | 1 (5%) | 1 (33.3%) | 4 (100%) | 1 (50%) | 0 | 0 | 0 |
Demographic clinical data for the full cohort or stratified along with the nature of the mutated gene (numbers of patients in each group is indicated). For patients who underwent multiple surgeries, clinical data and histopathological diagnoses from the last surgical procedure are indicated. d: day; m: month; y: years. No hippocampal sclerosis was observed in patients with temporal lobe cortical dysplasia. No interictal hypsarrhythmia EEG pattern was observed among patients with infantile spasms. Developmental delay has been classified according to the standard definition: mild IQ = 50–70, moderate IQ = 30–50, severe IQ < 30. Neuropsychological evaluation was performed in 76 patients