关键词: Atypical absence seizures Developmental epileptic encephalopathies Gene variant Neural networks Typical absence seizures

Mesh : Humans Child Epilepsy, Generalized Epilepsy, Absence / genetics drug therapy Seizures Drug Resistant Epilepsy ras GTPase-Activating Proteins / genetics Electroencephalography

来  源:   DOI:10.1016/j.yebeh.2024.109636

Abstract:
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.
摘要:
非典型性失神性癫痫发作是通常发生在有认知障碍的儿童中的全身性非惊厥性癫痫发作。它们在难治性癫痫中很常见,已被认为是发展性癫痫性脑病的标志之一。值得注意的是,与AAS相关的致病变异,如GABRG2,GABRG3,SLC6A1,CACNB4,SCN8A,和SYNGAP1也与发育性癫痫性脑病有关。非典型缺勤与典型缺勤的不同之处在于,它们通常具有耐药性,并且预后取决于病因或相关的癫痫综合征。提高临床医生对非典型缺勤的认识,为临床治疗提供新的视角,我们回顾了电临床特征,病因,治疗,非典型缺勤的预后,关注基因变异进展的病因,阐明改善临床管理的潜在途径。
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