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. 2023 May 17;32(14):2373–2385. doi: 10.1093/hmg/ddad081

Table 1.

Clinical features of epilepsy of seven patients

Patient 2 Patient 3 Patient 5 Patient 6 Patient 8 Patient 10 Patient11
Age (years) 13 15 12 18 14 1.75 1.6
Sex Female Male Male Male Female Male Female
ILAE classification Epilepsy from unknown type with seizures unknown onset Epilepsy from unknown type with seizures unknown onset Focal epilepsy with focal seizures with leftward eye deviation and impaired awareness West syndrome with infantile spasms and Lennox–Gastaut syndrome Generalized epilepsy/epilepsy with myoclonic absences Focal epilepsy with focal motor seizures (clonic and myoclonic) with impaired awareness Focal epilepsy with focal motor seizures (clonic and myoclonic) with impaired awareness
Age of onset 8 days 5 days 2 years 4 months 22 months 2 weeks 1 week
Description Neonatal convulsions, at 3.5y bilateral tonic–clonic seizure Neonatal seizures; seizure-free Focal seizures Refractory tonic seizures.
History of infantile spasms, myoclonic seizures, absences and atonic seizures
Seizures appear daily
Complex febrile seizures. Refractory focal seizures, absences with eyelid myoclonia and myoclonic absences, GTCS
Seizures appear daily
Focal seizures, seizure-free with oxcarbazepine Focal seizures, seizure-free with oxcarbazepine
EEG Multifocal epileptic discharges Normal Right-sided epileptiform discharges Abundant multifocal epileptiform activity; left>right slowing. Generalized 3-Hz spike and wave, progressive during sleep Multifocal, mainly central (−parietal) spikes Focal central spikes
Anti-epileptic treatment Lamotrigine (history: Valproic acid) None Valproic acid 500/500 mg, clonidine 0.1 mg Ketogenic diet, clonazepam, rufinamide, clobazam, cannabidiol, valproic acid, VNS Lamotrigine, VNS (history: valproic acid, clobazam, ethosuximide, topiramate levetiracetam) Oxcarbazepine

VNS: vagal nerve stimulator; GTCS: generalized tonic–clonic seizures.