TY - T1的癫痫持续状态和原因不明的猝死在遗传发育和癫痫患者癫痫脑病JF -神经学乔-神经病学SP - e1712 LP - e1722做- 10.1212 / WNL。首页0000000000207080六世- 100 - 16盟爱丽丝m .唐南AU -艾米·l·施耐德盟苏菲Russ-Hall AU -狮子座Churilov盟英格丽·e·雅伯Y1 - 2023/04/18 UR - //www.ez-admanager.com/content/100/16/e1712.abstract N2 -背景和目标基因发育和首页癫痫脑病(方式)由一大群严重癫痫综合征,具有宽光谱表型。目前,抽搐的癫痫持续状态(CSE) nonconvulsive癫痫持续状态(NCSE),和不明原因猝死羊角风(癫痫)在这些疾病并不清楚。我们旨在描述患者的比例经常观察到的遗传方式发达CSE, NCSE,死亡率和癫痫。理解这些严重的风险报告在每个基因迪将使早期诊断和适当的管理。方法回顾性分析患者的基因迪,我们估计CSE的比例,NCSE,癫痫和整体为每个基因诊断和SUDEP-specific死亡率。我们包括患者致病变种基因SCN1A SCN2A, SCN8A, SYNGAP1, NEXMIF, CHD2, PCDH19, STXBP1, GRIN2A, KCNT1, KCNQ2: Angelman综合征()。结果队列由510个人遗传迪,在我们观察CSE 47%, NCSE 19%。CSE发生在患者的比例最高SCN1A-associated方式,包括181/203 (89%;95%可信区间84 - 93)Dravet综合症患者和8/15 (53%;95%可信区间27 - 79)non-Dravet SCN1A-DEEs。 CSE was also notable in patients with pathogenic variants in KCNT1 (6/10; 60%; 95% CI 26–88) and SCN2A (8/15; 53%; 95% CI 27–79). NCSE was common in patients with non-Dravet SCN1A-DEEs (8/15; 53%; 95% CI 27–79) and was notable in patients with CHD2-DEEs (6/14; 43%; 95% CI 18–71) and AS (6/19; 32%; 95% CI 13–57). There were 42/510 (8%) deaths among the cohort, producing a mortality rate of 6.1 per 1,000 person-years (95% CI 4.4–8.3). Cases of SUDEP accounted for 19/42 (48%) deaths. Four genes were associated with SUDEP: SCN1A, SCN2A, SCN8A, and STXBP1. The estimated SUDEP rate was 2.8 per 1,000 person-years (95% CI 1.6–4.3).Discussion We showed that proportions of patients with CSE, NCSE, and SUDEP differ for commonly encountered genetic DEEs. The estimates for each genetic DEE studied will inform early diagnosis and management of status epilepticus and SUDEP and inform disease-specific counseling for patients and families in this high-risk group of conditions.AS=Angelman syndrome; CSE=convulsive status epilepticus; DD=developmental delay; DEE=developmental and epileptic encephalopathy; DEE-SWAS=developmental and epileptic encephalopathy with spike and wave activation in sleep; DS=Dravet syndrome; EOAE=early-onset absence epilepsy; GTCS=generalized tonic-clonic seizure; EIDEE=early infantile DEE; EIMFS=epilepsy of infancy with migrating focal seizures; EM=eyelid myoclonus; EEM=epilepsy with eyelid myoclonus; EMA=epilepsy with myoclonic absence; EMAtS=epilepsy with myoclonic atonic seizures; EOAE=early-onset absence epilepsy; GEFS+=generalized epilepsy with febrile seizures plus; IESS=infantile epileptic spasms syndrome; IGE=idiopathic generalized epilepsy; IQR=interquartile range; JME=juvenile myoclonic epilepsy; LGS=Lennox-Gastaut syndrome; LKS=Landau-Kleffner syndrome; NCSE=nonconvulsive status epilepticus; SeLECTS=self-limited epilepsy with centrotemporal spikes; SUDEP=sudden unexplained death in epilepsy ER -