To estimate the prevalence of epilepsy and febrile seizures and their association with genotype, i.e., 15q11-q13 deletions, uniparental chromosome 15 disomy (UPD) and other mutations, in the population with Prader-Willi syndrome (PWS). A systematic search of Medline, Scopus, Web of Science and the Cochrane Library was conducted. Studies estimating the prevalence of seizures, epilepsy and febrile seizures in the PWS population were included. Meta-analyses of the prevalence of epilepsy and febrile seizures and their association with genotype using the prevalence ratio (PR) were performed. Fifteen studies were included. The prevalence of epilepsy was 0.11 (0.07, 0.15), similar to the prevalence of febrile seizures, with a prevalence of 0.09 (0.05, 0.13). The comparison “deletion vs. UPD” had a PR of 2.03 (0.90, 4.57) and 3.76 (1.54, 9.18) for epilepsy and febrile seizures. The prevalence of seizure disorders in PWS is higher than in the general population. In addition, deletions in 15q11-q13 may be associated with a higher risk of seizure disorders. Therefore, active screening for seizure disorders in PWS should improve the lives of these people. In addition, genotype could be used to stratify risk, even for epilepsy, although more studies or larger sample sizes are needed.

中文翻译：

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普瑞德威利综合征癫痫的患病率和基因型关联：系统评价和荟萃分析

旨在估计 Prader-Willi 综合征 (PWS) 人群中癫痫和热性惊厥的患病率及其与基因型（即 15q11-q13 缺失、单亲 15 号染色体二体性 (UPD) 和其他突变）的关联。对 Medline、Scopus、Web of Science 和 Cochrane 图书馆进行了系统检索。评估 PWS 人群中癫痫发作、癫痫和热性惊厥患病率的研究也纳入其中。使用患病率（PR）对癫痫和热性惊厥的患病率及其与基因型的关联进行荟萃分析。纳入了十五项研究。癫痫的患病率为0.11（0.07，0.15），与热性惊厥的患病率相似，患病率为0.09（0.05，0.13）。对于癫痫和热性惊厥，“删除与 UPD”比较的 PR 分别为 2.03 (0.90, 4.57) 和 3.76 (1.54, 9.18)。 PWS 中癫痫发作的患病率高于一般人群。此外，15q11-q13 的缺失可能与癫痫病的较高风险相关。因此，积极筛查 PWS 中的癫痫发作应该可以改善这些人的生活。此外，基因型可用于对风险进行分层，即使是癫痫，尽管需要更多的研究或更大的样本量。