Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.
Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.
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DOI：
10.3389/fneur.2022.832380
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发表时间：
2022
影响因子：
3.4
通讯作者：
Sun T
中科院分区：
文献类型：
--
作者：
Ding J;Wang L;Jin Z;Qiang Y;Li W;Wang Y;Zhu C;Jiang S;Xiao L;Hao X;Hu X;Li X;Wang F;Sun T
Dravet综合征（DS）是一种严重的癫痫性脑病，主要由编码电压门控钠通道NaV1的基因SCN1A的单倍不足引起。1在大脑中。虽然已知SCN1A突变是DS的主要原因，但对可能导致DS的其他基因知之甚少。具有致病性突变的几个基因导致DS或DS样表型，这可能需要不同的药物治疗方法。因此，临床医生，特别是癫痫专家，迫切需要充分了解除了SCN1A之外的这些与DS有关的基因。特别是对于医疗保健提供者来说，深入了解这些致病基因有助于更有效、更及时地正确选择和调整药物。这项研究的目的是确定基因以外的SCN 1A，也可能导致DS或DS样表型。在PubMed中对相关Dravet综合征和婴儿期重度肌阵挛性癫痫进行了全面检索，直至2021年12月1日。两名独立作者对潜在合格研究进行了筛选。分歧由第三个更专业的研究人员决定，或者由三个人决定。对每项研究报告的结果进行了叙述性总结。PubMed检索产生了5，064个条目，其他来源检索了12个记录。2009年至2021年期间发表的共29项研究符合纳入标准。关于纳入的文章，纳入了7项关于PCDH 19的研究，3项关于SCN 2A的研究，2项关于SCN 8A的研究，5项关于SCN 1B的研究，2项关于GABRA 1的研究，3项关于GABRB 3的研究，3项关于GABRG 2的研究和3项关于STXBP1的研究。仅分别记录了一项针对CHD2、CPLX 1、HCN 1和KCNA 2的研究。值得注意的是，少数文章报道了一个以上的癫痫基因。DS不仅在SCN 1A的变体中被鉴定，而且其他基因如PCDH 19、SCN 2A、SCN 8A、SCN 1B、GABRA 1、GABRB 3、GABRG 2、KCNA2、CHD 2、CPLX 1、HCN 1A、STXBP1也可以参与DS或DS样表型。随着基因检测变得越来越广泛，更多与DS和DS样表型相关的基因可能被鉴定出来，并且基于基因的诊断该谱中表型亚型可能会改善未来对这些疾病的管理。
Dravet syndrome (DS) is a severe epileptic encephalopathy mainly caused by haploinsufficiency of the gene SCN1A, which encodes the voltage-gated sodium channel NaV1. 1 in the brain. While SCN1A mutations are known to be the primary cause of DS, other genes that may cause DS are poorly understood. Several genes with pathogenic mutations result in DS or DS-like phenotypes, which may require different drug treatment approaches. Therefore, it is urgent for clinicians, especially epilepsy specialists to fully understand these genes involved in DS in addition to SCN1A. Particularly for healthcare providers, a deep understanding of these pathogenic genes is useful in properly selecting and adjusting drugs in a more effective and timely manner. The purpose of this study was to identify genes other than SCN1A that may also cause DS or DS-like phenotypes. A comprehensive search of relevant Dravet syndrome and severe myoclonic epilepsy in infancy was performed in PubMed, until December 1, 2021. Two independent authors performed the screening for potentially eligible studies. Disagreements were decided by a third, more professional researcher or by all three. The results reported by each study were narratively summarized. A PubMed search yielded 5,064 items, and other sources search 12 records. A total of 29 studies published between 2009 and 2021 met the inclusion criteria. Regarding the included articles, seven studies on PCDH19, three on SCN2A, two on SCN8A, five on SCN1B, two on GABRA1, three on GABRB3, three on GABRG2, and three on STXBP1 were included. Only one study was recorded for CHD2, CPLX1, HCN1 and KCNA2, respectively. It is worth noting that a few articles reported on more than one epilepsy gene. DS is not only identified in variants of SCN1A, but other genes such as PCDH19, SCN2A, SCN8A, SCN1B, GABRA1, GABRB3, GABRG2, KCNA2, CHD2, CPLX1, HCN1A, STXBP1 can also be involved in DS or DS-like phenotypes. As genetic testing becomes more widely available, more genes associated with DS and DS-like phenotypes may be identified and gene-based diagnosis of subtypes of phenotypes in this spectrum may improve the management of these diseases in the future.
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