Table 1.
Clinical data from our cohort compared to available literature. CBZ, carbamazepine; CLB, clobazam; CZP, Clonazepam; EEG, electroencephalography; FeS, febrile seizure; FIA, focal impaired awareness; FS, focal seizure; GOFE, Generalized onset seizure with focal evolution; GPSW, Generalized Poly Spike and Waves; GSW, Generalized Spike and Waves; GTCS, generalized tonic-clonic seizure; Hz, hertz; LCM, lacosamide; LEV, levetiracetam; LTG, lamotrigine; MRI, magnetic resonance imaging; Nb, number; NS, non-specified; PHT, phenytoin; OXC, oxcarbamazepine; RFM, Rufinamide; SGTCS, secondary generalized spike-and-wave; TPM, topiramate; VPA, valproic acid; ZNS, zonisamid.
| Patient 1 | Patient 2 | Patient 3 | Williamson et al. 6 cases |
Linane et al. 10 cases |
|
|---|---|---|---|---|---|
| (Mean) age of onset (m: month; y: year) | 13 y | 20 y | 22 y | 4,8 y [10 m-14y] | 9 y [3y-15y] |
| Familial history | FeS | No | No | 3/6 | 6/10 (3 FeS) |
| Neuroimaging | Normal MRI | Normal MRI | Normal MRI | 4/4 normal MRI | 6/8 normal MRI, 1 right mesial temporal sclerosis, 1 left anterior middle cranial fossa arachnoid cyst |
| Initial | |||||
| Suspected seizure type | GTCS | GTCS | GTCS | GTCS, absences, FS, FIA, SGTCS | GTCS, focal, myoclonic |
| 1st treatment | LTG | LTG | VPA | CBZ, PHT | 8/10 with ≥ 2 treatments; LEV (7/10), TPM (5/10), LTG (5/10), OXC or CBZ (3/10), LCM (1/10), ZNS (1/10) |
| Onset of GOFE | |||||
| Clinical onset | Behavior arrest | Behavior arrest | Behavior arrest | Absence (4/6) Myoclonic (2/6) | Behavior arrest, staring, brief myoclonic jerk |
| EEG onset | GPSW (2 s) | GPSW (2 s) | GPSW (2 s) | 2 to 6 Hz GSW or GPSW activity |
3 to 5 Hz GSW or GPSW activity |
| Evolution of GOFE | |||||
| Clinical evolution | Blinking, right clonic ocular version, unconsciousness → bilateral tonic-clonic |
Left head version, figure 4 sign → bilateral tonic-clonic | Left head version → bilateral tonic-clonic | Clonic activity, focal motor features, automatisms or immobility | Versive head turning, automatism (oral, verbal, manual) |
| EEG evolution (focal) | Left parieto-occipital (for both seizures) |
Right frontal | Left frontal | Left posterior quadrant (3/6), left frontotemporal (1/6), left hemisphere (1/6), right hemisphere (1/6) | Frontal region (10) temporal region (6), occipital (1) parietal (1) |
| Interictal epileptiform discharges | 3–5 Hz GSW or GPSW | 3–5 Hz GSW or GPSW | 3–5 Hz GSW | GSW and GPSW 2,5–6 Hz | GSW and GPSW 2 to 9 Hz |
| Long-term effective treatment/Nb of prior treatment | VPA/2 | VPA/2 | VPA/1 | NS | LEV (8), LTG (6), TPM (4), CLB (3), VPA (2), CZP (1), RFM (1) |