Ding Jiangwei, Wang Lei, Jin Zhe, Qiang Yuanyuan, Li Wenchao, Wang Yangyang, Zhu Changliang, Jiang Shucai, Xiao Lifei, Hao Xiaoyan, Hu Xulei, Li Xinxiao, Wang Feng, Sun Tao
Ningxia Key Laboratory of Cerebrocranial Disease, The Incubation Base of National Key Laboratory, Ningxia Medical University, Yinchuan, China.
Department of Neurosurgery, General Hospital of Ningxia Medical University, Yinchuan, China.
Front Neurol. 2022 Mar 11;13:832380. doi: 10.3389/fneur.2022.832380. eCollection 2022.
Dravet syndrome (DS) is a severe epileptic encephalopathy mainly caused by haploinsufficiency of the gene , which encodes the voltage-gated sodium channel Na1. 1 in the brain. While 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 . 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 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 , three on , two on , five on , two on , three on , three on , and three on were included. Only one study was recorded for and , respectively. It is worth noting that a few articles reported on more than one epilepsy gene.
DS is not only identified in variants of , but other genes such as 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.
德雷维特综合征（DS）是一种严重的癫痫性脑病，主要由编码大脑中电压门控钠通道Na1.1的基因单倍剂量不足引起。虽然已知 突变是DS的主要原因，但对其他可能导致DS的基因了解甚少。几个具有致病突变的基因会导致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，尤其是癫痫专家，除了 之外，迫切需要充分了解这些与DS相关的基因。特别是对于医疗服务提供者来说，深入了解这些致病基因有助于更有效、及时地正确选择和调整药物。
本研究的目的是识别除 之外可能也会导致DS或DS样表型的基因。
在PubMed上对截至2021年12月1日的相关德雷维特综合征和婴儿严重肌阵挛性癫痫进行全面检索。两名独立作者对潜在符合条件的研究进行筛选。分歧由第三位更专业的研究人员或三人共同决定。对每项研究报告的结果进行叙述性总结。
PubMed检索产生了5064条记录，其他来源检索到12条记录。2009年至2021年间发表的共有29项研究符合纳入标准。关于纳入的文章，包括7项关于 的研究、3项关于 的研究、2项关于 的研究、5项关于 的研究、2项关于 的研究、3项关于 的研究、3项关于 的研究和3项关于 的研究。 和 分别仅记录了1项研究。值得注意的是，有几篇文章报道了不止一种癫痫基因。
DS不仅在 的变体中被识别，其他基因如 也可能参与DS或DS样表型。随着基因检测的更广泛应用，可能会识别出更多与DS和DS样表型相关的基因，基于基因的该谱系表型亚型诊断可能会改善未来这些疾病的管理。
