Rev Neurosci. 2014;25(1):129-61. doi: 10.1515/revneuro-2013-0053.
Febrile seizures (FSs) occur in children older than 1 month and without prior afebrile seizures in the absence of a central nervous system infection or acute electrolyte imbalance. Their pathogenesis is multifactorial. The most relevant familial studies evidence an occurrence rate ranging from 10% to 46% and median recurrence rate of 36% in children with positive familial history for FS. The main twin studies demonstrated a higher concordance rate in monozygotic twins with FS than in dizygotic ones. Linkage studies have proposed 11 chromosomal locations responsible to FS attributed to FEB1 to FEB11. Population-based association studies have shown at least one positive association for 14 of 41 investigated genes with FS. The proinflammatory cytokine interleukin 1β (IL-1β) was the most investigated and also gene associated with susceptibility to FS. A possible role in the overlapping of epilepsy and FS was found for 16 of 36 investigated genes. SCN1A, IL-1β, CHRNA4, and GABRG2 were the most commonly involved genes in this context. The genetic background of FS involves the regulation of different processes, including individual and familial susceptibility, modulation of immune response, and neuronal excitability and interactions with exogenous agents such as viruses.
热性惊厥（FS）发生于 1 个月以上、无中枢神经系统感染或急性电解质失衡的既往无热惊厥的儿童。其发病机制是多因素的。最相关的家族研究证据表明，有 FS 家族史的儿童的发生率在 10%至 46%之间，中位数复发率为 36%。主要的双胞胎研究表明，FS 同卵双胞胎的一致性率高于异卵双胞胎。连锁研究提出了 11 个与 FEB1 至 FEB11 相关的染色体位置负责 FS。基于人群的关联研究表明，在 41 个研究基因中，至少有 14 个与 FS 呈阳性关联。促炎细胞因子白细胞介素 1β（IL-1β）是研究最多的，也是与 FS 易感性相关的基因。在研究的 36 个基因中，有 16 个基因可能与癫痫和 FS 重叠。SCN1A、IL-1β、CHRNA4 和 GABRG2 是该背景下最常见的相关基因。FS 的遗传背景涉及到不同过程的调节，包括个体和家族易感性、免疫反应的调节、神经元兴奋性以及与病毒等外源性物质的相互作用。
