Restless legs syndrome is a frequent neurological disorder with substantial burden on individual well‐being and public health. Genetic risk loci have been identified, but the causatives genes at these loci are largely unknown, so that functional investigation and clinical translation of molecular research data are still inhibited. To identify putatively causative genes, we searched for highly significant mutational burden in candidate genes.

中文翻译：

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不宁腿综合征基因突变负荷分析鉴定

不宁腿综合征是一种常见的神经系统疾病，对个人福祉和公共健康造成重大负担。遗传风险位点已经确定，但这些位点的致病基因在很大程度上是未知的，因此分子研究数据的功能研究和临床转化仍然受到抑制。为了识别推定的致病基因，我们在候选基因中寻找高度显着的突变负荷。