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The Molecular Genetic Interaction Between Circadian Rhythms and Susceptibility to Seizures and Epilepsy.昼夜节律与癫痫易感性之间的分子遗传相互作用
Front Neurol. 2020 Jun 23;11:520. doi: 10.3389/fneur.2020.00520. eCollection 2020.
2
Epilepsy and Its Interaction With Sleep and Circadian Rhythm.癫痫及其与睡眠和昼夜节律的相互作用。
Front Neurol. 2020 May 8;11:327. doi: 10.3389/fneur.2020.00327. eCollection 2020.
3
Sleep-related hypermotor epilepsy: A prediction cohort study on sleep/awake patterns of seizures.睡眠相关运动性癫痫:癫痫睡眠/觉醒模式的预测队列研究。
Epilepsia. 2019 Nov;60(11):e115-e120. doi: 10.1111/epi.16369. Epub 2019 Oct 15.
4
Polysomnographic features differentiating disorder of arousals from sleep-related hypermotor epilepsy.睡眠发作障碍与睡眠相关运动性癫痫的多导睡眠图特征区别。
Sleep. 2019 Dec 24;42(12). doi: 10.1093/sleep/zsz166.
5
Migrating focal seizures in Autosomal Dominant Sleep-related Hypermotor Epilepsy with KCNT1 mutation.携带KCNT1突变的常染色体显性遗传性睡眠相关运动过多性癫痫中的游走性局灶性发作
Seizure. 2019 Apr;67:57-60. doi: 10.1016/j.seizure.2019.02.019. Epub 2019 Mar 7.
6
Clinical features of sleep-related hypermotor epilepsy in relation to the seizure-onset zone: A review of 135 surgically treated cases.睡眠相关运动性癫痫的临床特征与痫灶相关性:135 例手术治疗病例回顾。
Epilepsia. 2019 Apr;60(4):707-717. doi: 10.1111/epi.14690. Epub 2019 Mar 13.
7
Mild malformations of cortical development in sleep-related hypermotor epilepsy due to mutations.由于 突变导致的与睡眠相关的运动过度性癫痫的皮质发育轻度畸形。
Ann Clin Transl Neurol. 2018 Dec 25;6(2):386-391. doi: 10.1002/acn3.708. eCollection 2019 Feb.
8
Sleep-related hypermotor epilepsy and peri-ictal hypotension in a patient with syntaxin-1B mutation.伴有突触结合蛋白 1B 突变的睡眠相关运动性癫痫和发作间期低血压
Epileptic Disord. 2018 Oct 1;20(5):413-417. doi: 10.1684/epd.2018.0996.
9
Sleep-related hypermotor epilepsy: prevalence, impact and management strategies.睡眠相关性运动过多型癫痫:患病率、影响及管理策略
Nat Sci Sleep. 2018 Oct 10;10:317-326. doi: 10.2147/NSS.S152624. eCollection 2018.
10
The landscape of epilepsy-related GATOR1 variants.癫痫相关 GATOR1 变异体的全景。
Genet Med. 2019 Feb;21(2):398-408. doi: 10.1038/s41436-018-0060-2. Epub 2018 Aug 10.

[睡眠相关性运动过多性癫痫的研究进展]

[Advances in sleep-related hypermotor epilepsy].

作者信息

Xu Jiahui, Jin Bo, Zhang Lisan, Wang Shuang

机构信息

Department of Neurology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou 310016, China.

Department of Neurology, Zhejiang Provincial People's Hospital, Hangzhou 310014, China.

出版信息

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2020 Aug 25;49(4):425-430. doi: 10.3785/j.issn.1008-9292.2020.08.04.

DOI:10.3785/j.issn.1008-9292.2020.08.04
PMID:32985154
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8800679/
Abstract

Sleep-related hypermotor epilepsy (SHE), formerly known as nocturnal frontal epilepsy, is characterized by asymmetrical tonic or complex hypermotor seizures during sleep, with transient, frequent and clustering attack. The accurate incidence is not known but somehow low, which is estimated about 1.8/100 000. The differential diagnosis between SHE and parasomnias may be challenging due to possible similarities between the two sleep-related manifestations. In a majority of patients, the etiology is unknown. Identified etiologies are heterogeneous and structural abnormalities,which are involved in the severity and prognosis of SHE. In terms of treatment, it mainly includes pharmacological therapy and surgery. Carbamazepine seems to be the drug of choice in SHE patients, and epilepsy surgery provides excellent results in selected drug-resistant SHE cases. This review will focus on diagnosis, pathogenesis, treatment and prognosis of SHE, aiming to promote its early diagnosis and appropriate treatment.

摘要

睡眠相关性运动过多型癫痫(SHE),以前称为夜间额叶癫痫,其特征是睡眠期间出现不对称性强直或复杂的运动过多型发作,发作短暂、频繁且成簇。准确发病率尚不清楚,但总体较低,估计约为1.8/10万。由于这两种与睡眠相关的表现可能存在相似之处,SHE与睡眠障碍的鉴别诊断可能具有挑战性。大多数患者病因不明。已确定的病因多种多样,包括结构异常,这些因素与SHE的严重程度和预后有关。在治疗方面,主要包括药物治疗和手术治疗。卡马西平似乎是SHE患者的首选药物,癫痫手术在部分耐药性SHE病例中效果良好。本综述将聚焦于SHE的诊断、发病机制、治疗及预后,旨在促进其早期诊断和合理治疗。