ArticleFrontiers in genetics2021
Genetic Etiologies in Developmental and/or Epileptic Encephalopathy With Electrical Status Epilepticus During Sleep: Cohort Study.
Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 37 citations in OpenAlex.
- Causal Relationship Between Epilepsy, Status Epilepticus and Sleep-Related Traits: A Bidirectional Mendelian Randomization Study.Brain sciences · 2025Article
- [Landau-Kleffner Syndrome: Current Etiopathogenesis and Management].Revista de neurologia · 2025Review
- Predicting progression from SeLECTS with SWAS to EE-SWAS: risk factor identification and model development.Frontiers in human neuroscience · 2025Article
- Vagus nerve stimulation for spike-and-wave activation in sleep in a pediatric patient: a case report.Frontiers in neuroscience · 2025Article
- Constitutive opening of the Kv7.2 pore activation gate causesProceedings of the National Academy of Sciences of the United States of America · 2024Article
- Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort.Neurogenetics · 2024Article
- Continuous Spike-Waves during Slow Sleep Today: An Update.Children (Basel, Switzerland) · 2024Review
- A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.BMC medical genomics · 2023Article
- Changes in functional connectivity in newly diagnosed self-limited epilepsy with centrotemporal spikes and cognitive impairment: An MEG study.Brain and behavior · 2022Article
- Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum ofFrontiers in neurology · 2021Article
- Case Report: NovelFrontiers in neurology · 2021Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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
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.
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