Abstract
BackgroundRecently, the electroencephalogram pattern of electrical status epilepticus during sleep (ESES) had been reported in some genetic disorders, and most of them were noted with developmental and epileptic encephalopathy (DEE) or epileptic encephalopathy (EE). This study aimed to determine the genetic etiologies and clinical characteristics of ESES in DEE/EE.MethodsWe performed a cohort study in cases of DEE or EE with ESES. Tio-based genetic testing was performed in 74 cases and was analyzed to identify underlying variants.ResultsPathogenic or likely pathogenic variants were identified in 17/74 cases, including KCNQ2 (n = 6), KCNA2 (n = 5), GRIN2A (n = 3), SLC9A6 (n = 1), HIVEP2 (n = 1), and RARS2 (n = 1). Eleven were boys. The median age at seizure onset was 6 months. ESES occurred at the mean age of 2.0 ± 1.2 years, predominant in the Rolandic region in 14 years. Twelve of 17 cases had the first stage of different epilepsy preceding ESES: 2/12 were diagnosed as Ohtahara syndrome, 2/12 were diagnosed as infantile spasms, 3/12 were diagnosed as DEE, and 5/12 were diagnosed as EE without the epileptic syndrome.ConclusionMonogenic variants explained over 20% of DEE/EE with ESES. ESES could be an age-related feature in genetic disorders and occurred after the first stage of different epilepsy. Both age-related factors and genetic etiology were suggested to play a role in the occurrence of ESES in genetic DEE/EE.
Highlights
Electrical status epilepticus during sleep (ESES) initially described an electroencephalogram (EEG) pattern where interictal focal or multifocal spike-and-wave occupied at least 85% of the EEG tracing during non-rapid eye movement (NREM) sleep (Patry et al, 1971)
developmental and epileptic encephalopathy (DEE), development and epileptic encephalopathy; EE, epileptic encephalopathy; ESES, epileptic encephalopathy with electrical status epilepticus during sleep; IS, infantile spasms; PP-2, PolyPhen2; ABPE, epileptic encephalopathy of atypical benign partial epilepsy; OS, Ohtahara syndrome; WES, whole exome sequencing; CSWS, epileptic encephalopathy with continuous spike-and-wave during sleep; AR, autosomal recessive
EEG, electroencephalogram; AEDs, anti-epileptic drugs; F, female; y, years; m, months; AA, atypical absence; MC, myoclonic seizures; BG, background; Sp, spikes; Sh-W, sharp-waves; ESES, electrical status epilepticus during sleep; SWI, spike-wave index; VPA, valproic acid; LEV, levetiracetam; CZP, clonazepam; N, normal; Psychom.dev., psychomotor developmental; M, male; sGTCS, secondary generalized tonic–clonic seizure; SE, status epilepticus; FS, febrile seizures; Pr, posterior; GTCS, generalized tonic–clonic seizure; Ar, anterior; GSW, generalized spike and waves; TPM, topiramate; PB, phenobarbitone
Summary
Electrical status epilepticus during sleep (ESES) initially described an electroencephalogram (EEG) pattern where interictal focal or multifocal spike-and-wave occupied at least 85% of the EEG tracing during non-rapid eye movement (NREM) sleep (Patry et al, 1971). ESES in Genetic DEE/EE with centrotemporal spikes, atypical benign partial epilepsy (ABPE), Landau–Kleffner syndrome, and epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS). The latter three were known as epileptic encephalopathy (EE) (Loddenkemper et al, 2011). The electroencephalogram pattern of electrical status epilepticus during sleep (ESES) had been reported in some genetic disorders, and most of them were noted with developmental and epileptic encephalopathy (DEE) or epileptic encephalopathy (EE). This study aimed to determine the genetic etiologies and clinical characteristics of ESES in DEE/EE
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