Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.
Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.
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DOI：
10.1186/s12863-018-0628-5
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发表时间：
2018-07-06
期刊：
影响因子：
2.9
通讯作者：
Yin F
中科院分区：
文献类型：
--
作者：
Kessi M;Peng J;Yang L;Xiong J;Duan H;Pang N;Yin F
慢波睡眠期间癫痫持续电状态（ESESS），也称为慢波睡眠连续尖波（CSWSS），是一种脑电图（EEG）模式，见于慢波睡眠/CSWSS/癫痫失语谱。这种脑电图模式可以单独出现，也可以与其他综合征一起出现。其病因尚不清楚，然而，脑畸形，免疫紊乱和遗传病因被怀疑有贡献。我们的目的是对已报道的与ESESS/CSWSS/癫痫-失语谱系相关的所有遗传病因进行系统回顾。我们进一步旨在确定可以解释它的共同潜在途径。据我们所知，目前还没有关于ESESS/CSWSS/癫痫-失语谱系遗传病因的系统综述。检索MEDLINE， EMBASE， PubMed和Cochrane综述数据库，使用睡眠期间癫痫持续电状态或慢睡眠期间连续峰波放电或癫痫-失语症谱和遗传病因研究的特定术语。其中包括单基因突变和拷贝数变异（CNVs）。对于每个疑似剂量敏感基因，通过OMIM和PubMed数据库进行进一步研究。136项研究中有26项符合我们的纳入标准。在这26项研究中发现了I51例病例。16项研究报告了11个单基因突变：SCN2A （N = 6）、NHE6/SLC9A6 （N = 1）、DRPLA/ ATN1 （N = 1）、Neuroserpin/SRPX2 （N = 1）、OPA3 （N = 1）、KCNQ2 （N = 2）、KCNA2 （N = 5）、GRIN2A （N = 34）、CNKSR2 （N = 2）、SLC6A1 （N = 2）和KCNB1 （N = 5）。10项研究报告了89个CNVs，其中包括9个复发性CNVs: Xp22.12缺失包含CNKSR2 (N = 6)， 16p13缺失包含GRIN2A (N = 4), 15q11.2-13.1重复（N = 15）， 3q29重复（N = 11）， 11p13重复（N = 2）， 10q21.3缺失（N = 2）， 3q25缺失（N = 2）， 8p23.3缺失（N = 2）和9p24.2 （N = 2）。仅在ESESS/CSWSS/癫痫性失语谱系患者中检测到68种遗传病因，包括单基因突变和CNVs。最常见的潜在途径是通道病变（N = 56）。我们的综述表明，遗传病因在ESESS/CSWSS/癫痫-失语谱系的发生中起作用。常见的潜在途径是通道病。因此，我们建议进行更多的基因研究，以获得更多的发现，为正确的药物鉴定铺平道路。我们也建议发展共同的切断值的尖峰波指数，以确保共同的语言在临床医生和研究人员。本文的在线版本（10.1186/s12863-018-0628-5）包含补充材料，授权用户可使用。
Electrical status epilepticus during slow-wave sleep (ESESS) which is also known as continuous spike-wave of slow sleep (CSWSS) is type of electroencephalographic (EEG) pattern which is seen in ESESS/CSWSS/epilepsy aphasia spectrum. This EEG pattern can occur alone or with other syndromes. Its etiology is not clear, however, brain malformations, immune disorders, and genetic etiologies are suspected to contribute. We aimed to perform a systematic review of all genetic etiologies which have been reported to associate with ESESS/CSWSS/epilepsy-aphasia spectrum. We further aimed to identify the common underlying pathway which can explain it. To our knowledge, there is no available systematic review of genetic etiologies of ESESS/CSWSS/epilepsy-aphasia spectrum. MEDLINE, EMBASE, PubMed and Cochrane review database were searched, using terms specific to electrical status epilepticus during sleep or continuous spike–wave discharges during slow sleep or epilepsy-aphasia spectrum and of studies of genetic etiologies. These included monogenic mutations and copy number variations (CNVs). For each suspected dosage-sensitive gene, further studies were performed through OMIM and PubMed database. Twenty-six studies out of the 136 identified studies satisfied our inclusion criteria. I51 cases were identified among those 26 studies. 16 studies reported 11 monogenic mutations: SCN2A (N = 6), NHE6/SLC9A6 (N = 1), DRPLA/ ATN1 (N = 1), Neuroserpin/SRPX2 (N = 1), OPA3 (N = 1), KCNQ2 (N = 2), KCNA2 (N = 5), GRIN2A (N = 34), CNKSR2 (N = 2), SLC6A1 (N = 2) and KCNB1 (N = 5). 10 studies reported 89 CNVs including 9 recurrent ones: Xp22.12 deletion encompassing CNKSR2 (N = 6), 16p13 deletion encompassing GRIN2A (N = 4), 15q11.2–13.1 duplication (N = 15), 3q29 duplication (N = 11), 11p13 duplication (N = 2), 10q21.3 deletion (N = 2), 3q25 deletion (N = 2), 8p23.3 deletion (N = 2) and 9p24.2 (N = 2). 68 of the reported genetic etiologies including monogenic mutations and CNVs were detected in patients with ESESS/CSWSS/epilepsy aphasia spectrum solely. The most common underlying pathway was channelopathy (N = 56). Our review suggests that genetic etiologies have a role to play in the occurrence of ESESS/CSWSS/epilepsy-aphasia spectrum. The common underlying pathway is channelopathy. Therefore we propose more genetic studies to be done for more discoveries which can pave a way for proper drug identification. We also suggest development of common cut-off value for spike-wave index to ensure common language among clinicians and researchers. The online version of this article (10.1186/s12863-018-0628-5) contains supplementary material, which is available to authorized users.
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影响因子：
30.8
作者：
Carvill, Gemma L.;Regan, Brigid M.;Yendle, Simone C.;O'Roak, Brian J.;Lozovaya, Natalia;Bruneau, Nadine;Burnashev, Nail;Khan, Adiba;Cook, Joseph;Geraghty, Eileen;Sadleir, Lynette G.;Turner, Samantha J.;Tsai, Meng-Han;Webster, Richard;Ouvrier, Robert;Damiano, John A.;Berkovic, Samuel F.;Shendure, Jay;Hildebrand, Michael S.;Szepetowski, Pierre;Scheffer, Ingrid E.;Mefford, Heather C.
通讯作者：
Mefford, Heather C.
影响因子：
82.9
作者：
Cope, David W.;Di Giovanni, Giuseppe;Fyson, Sarah J.;Orban, Gergely;Errington, Adam C.;Lorincz, Magor L.;Gould, Timothy M.;Carter, David A.;Crunelli, Vincenzo
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Crunelli, Vincenzo
影响因子：
3.2
作者：
Lee, Inn-Chi;Yang, Jiann-Jou;Li, Shuan-Yow
通讯作者：
Li, Shuan-Yow
影响因子：
29
作者：
de Kovel, Carolien G. F.;Syrbe, Steffen;Koeleman, Bobby P. C.
通讯作者：
Koeleman, Bobby P. C.
影响因子：
2.6
作者：
Arkilo, Dimitrios;Devinsky, Orrin;Thibert, Ronald
通讯作者：
Thibert, Ronald