Table 2.
EEG features of the nine patients with the recurrent de novo p.Glu590Lys variant of CUX2
| Patient n° | EEG at onset | Later EEG studies | AEDs trialled | Current AEDs | Epilepsy syndrome |
|---|---|---|---|---|---|
| Patient 1 5 | Hypsarrhythmia | Background slowing, but no epileptiform discharges | STM, VPA, Synacthen for 3 months with improvement | VPA | DEE: West syndrome |
| Patient 2 | GSW, sometimes with myoclonic seizures. Right occipital seizure recorded | 3 Hz GSW, absence seizures with myoclonic components | VPA, CLB | VPA | Myoclonic DEE |
| Patient 3 | 3–4 Hz GSW, GPSW | Background slowing, frequent trains of 1.5–2 Hz and 3–4 Hz GSW; myoclonic seizures with GSW | VPA, OXC, CBZ, LTG, VGB, ZNS, PHT, NZP | LEV, CLB, VPA, ZNS VNS (beneficial) |
DEE: Lennox-Gastaut syndrome |
| Patient 4 | GSW, GPSW | Myoclonic seizures with GPSW. Tonic seizures with generalized polyspike | LEV, CZP, ESX, CBZ, LCM, RUF | ESX, CLB, LCM, RUF, ketogenic diet | DEE: Lennox-Gastaut syndrome |
| Patient 5 | 3 Hz GSW | Slow background, Absence seizure with 3 Hz GSW, fast irregular GSW, GPSW | VPA | VPA, LTG | Severe Developmental Encephalopathy with Genetic Generalised Epilepsy (early onset absence epilepsy and myoclonic seizures) |
| Patient 6 6 | Left temporal spikes/sharp waves | Slow background with multifocal epileptiform discharges | CBZ, VPA, CLB, ACZ, LTG, FBM, DZP, LEV, CZP, TPM, prednisolone, VNS, ketogenic diet | VPA, CZP, TPM | Myoclonic DEE |
| Patient 7 | GSW, GPSW | GSW with myoclonic seizure. During sleep, continuous 1–2 Hz GSW | CBZ, VPA, ACZ, LTG, TPM, CZP, LEV, RUF, LCM, CLB, PER | VPA, CLB, STP | Myoclonic DEE |
| Patient 8 | Multifocal discharges, mainly independent bi-parieto-temporal | Slowing and sharp waves in the left temporal region | VPA, DZP, PB, LEV | VPA | Multifocal epilepsy, too early to diagnose DEE |
| Patient 9 26 | Left fronto-central slowing | Normal EEG | VPA | VPA | Severe Developmental Encephalopathy with absence epilepsy |
ACZ = Acetazolamide; AED = anti-epileptic drug; CBZ = carbamazepine; CLB = Clobazam; CZP = Clonazepam; DEE = Developmental and Epileptic Encephalopathy; DZP = Diazepam; ESX = Ethosuximide; FBM = Felbamate; GSW = generalized spike-wave; GPSW = generalized polyspike-wave; LCM lacosamide; LEV = Levetiracetam; LTG = lamotrigine; MDZ = Midazolam; NZP = nitrazepam; OXC = Oxcarbazepine; PB = Phenobarbitone; PHT = phenytoin; PER = perampanel; RUF = Rufinamide; STM = Sulthiame; STP = Stiripentol; TPM = Topiramate; VGB = Vigabatrin; VNS = vagal nerve stimulation; VPA = valproate; ZNS = Zonisamide.