Abstract：
Status Epilepticus (SE) is a neurological emergency resulting from the failure of mechanisms of seizure termination or from the initiation of mechanisms that lead to prolonged seizures. The International League Against Epilepsy (ILAE) identified 13 chromosomal disorders associated with epilepsy (CDAE); data regarding SE occurrence in these patients is lacking. A systematic scoping review was conducted to outline current literature evidence about clinical features, treatments, and outcomes of SE in pediatric and adult patients with CDAE. A total of 373 studies were identified with the initial search; 65 of these were selected and regarded as SE in Angelman Syndrome (AS, n = 20), Ring 20 Syndrome (R20, n = 24), and other syndromes (n = 21). Non-convulsive status epilepticus (NCSE) is frequently observed in AS and R20. No specific, targeted therapies for SE in CDAE are available to date; anecdotal reports about SE treatment are described in the text, as well as various brief- and long-term outcomes. Further evidence is needed to precisely portray the clinical features, treatment options, and outcomes of SE in these patients.
摘要：
癫痫持续状态（SE）是由于癫痫发作终止机制的失败或导致癫痫发作延长的机制的启动而导致的神经系统紧急情况。国际抗癫痫联盟（ILAE）确定了13种与癫痫相关的染色体疾病（CDAE）；缺乏有关这些患者SE发生的数据。进行了系统的范围审查，以概述有关临床特征的现有文献证据，治疗,儿童和成人CDAE患者的SE结果。最初的搜索共确定了373项研究；其中65项被选择并视为Angelman综合征中的SE（AS，n=20),环20综合征（R20，n=24），和其他综合征（n=21）。在AS和R20中经常观察到非惊厥性癫痫持续状态（NCSE）。没有具体的,迄今为止，CDAE中SE的靶向治疗是可用的；关于SE治疗的轶事报道在文中描述，以及各种短期和长期结果。需要进一步的证据来精确描述临床特征，治疗方案,以及这些患者的SE结果。
