The present review systematically summarized existing publications regarding the genetic associations between voltage-gated calcium channels (VGCCs) and autism spectrum disorder (ASD). A comprehensive literature search was conducted to gather pertinent studies in three online databases. Two authors independently screened the included records based on the selection criteria. Discrepancies in each step were settled through discussions. From 1163 resulting searched articles, 28 were identified for inclusion. The most prominent among the VGCCs variants found in ASD were those falling within loci encoding the α subunits, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, and CACNA1I as well as those of their accessory subunits CACNB2, CACNA2D3, and CACNA2D4. Two signaling pathways, the IP3-Ca2+ pathway and the MAPK pathway, were identified as scaffolds that united genetic lesions into a consensus etiology of ASD. Evidence generated from this review supports the role of VGCC genetic variants in the pathogenesis of ASD, making it a promising therapeutic target. Future research should focus on the specific mechanism that connects VGCC genetic variants to the complex ASD phenotype.

中文翻译：

---

电压门控钙通道与自闭症谱系障碍之间的遗传关联：系统评价。

本综述系统地总结了有关电压门控钙通道（VGCC）和自闭症谱系障碍（ASD）之间的遗传关联的现有出版物。进行了全面的文献检索，以收集三个在线数据库中的相关研究。两位作者根据选择标准独立筛选了包含的记录。通过讨论解决了每个步骤中的差异。从1163个搜索结果中，有28个被确定为包括在内。在ASD中发现的VGCC变体中最突出的是属于编码α亚基的基因座的那些，即CACNA1A，CACNA1B，CACNA1C，CACNA1D，CACNA1E，CACNA1F，CACNA1G，CACNA1H和CACNA1I以及它们的附属亚基CACNB2，和CACNA2D4。两个信号通路，即IP3-Ca2 +通路和MAPK通路，被鉴定为将遗传病灶统一为ASD病因的支架。这篇综述得出的证据支持了VGCC基因变异在ASD发病机理中的作用，使其成为有希望的治疗靶标。未来的研究应集中在将VGCC遗传变异与复杂的ASD表型联系起来的特定机制上。