Atypical absence seizures and gene variants: A gene-based review of etiology, electro-clinical features, and associated epilepsy syndrome

•AAS is a common seizure form of refractory epilepsy often associated with epileptic syndromes.•AS have not been thoroughly studied in terms of both basic and clinical research.•Neural network of AAS might be cortical-thalamic-hippocampal circuit related.•Mutations in ion channels and GABAergic func...

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Veröffentlicht in:Epilepsy & behavior 2024-02, Vol.151, p.109636-109636, Article 109636
Hauptverfasser: Zhao, Xiaoyu, He, Zimeng, Li, Yumei, Yang, Xiaofan, Li, Baomin
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He, Zimeng
Li, Yumei
Yang, Xiaofan
Li, Baomin
description •AAS is a common seizure form of refractory epilepsy often associated with epileptic syndromes.•AS have not been thoroughly studied in terms of both basic and clinical research.•Neural network of AAS might be cortical-thalamic-hippocampal circuit related.•Mutations in ion channels and GABAergic function are most common in AAS. Atypical absence seizures are generalized non-convulsive seizures that often occur in children with cognitive impairment. They are common in refractory epilepsy and have been recognized as one of the hallmarks of developmental epileptic encephalopathies. Notably, pathogenic variants associated with AAS, such as GABRG2, GABRG3, SLC6A1, CACNB4, SCN8A, and SYNGAP1, are also linked to developmental epileptic encephalopathies. Atypical absences differ from typical absences in that they are frequently drug-resistant and the prognosis is dependent on the etiology or related epileptic syndromes. To improve clinicians' understanding of atypical absences and provide novel perspectives for clinical treatment, we have reviewed the electro-clinical characteristics, etiologies, treatment, and prognosis of atypical absences, with a focus on the etiology of advancements in gene variants, shedding light on potential avenues for improved clinical management.
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Atypical absence seizures are generalized non-convulsive seizures that often occur in children with cognitive impairment. They are common in refractory epilepsy and have been recognized as one of the hallmarks of developmental epileptic encephalopathies. Notably, pathogenic variants associated with AAS, such as GABRG2, GABRG3, SLC6A1, CACNB4, SCN8A, and SYNGAP1, are also linked to developmental epileptic encephalopathies. Atypical absences differ from typical absences in that they are frequently drug-resistant and the prognosis is dependent on the etiology or related epileptic syndromes. 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Atypical absence seizures are generalized non-convulsive seizures that often occur in children with cognitive impairment. They are common in refractory epilepsy and have been recognized as one of the hallmarks of developmental epileptic encephalopathies. Notably, pathogenic variants associated with AAS, such as GABRG2, GABRG3, SLC6A1, CACNB4, SCN8A, and SYNGAP1, are also linked to developmental epileptic encephalopathies. Atypical absences differ from typical absences in that they are frequently drug-resistant and the prognosis is dependent on the etiology or related epileptic syndromes. 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subjects Atypical absence seizures
Developmental epileptic encephalopathies
Gene variant
Neural networks
Typical absence seizures
title Atypical absence seizures and gene variants: A gene-based review of etiology, electro-clinical features, and associated epilepsy syndrome
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