Fever-associated seizures or epilepsy (FASE) is primarily characterised by the occurrence of a seizure or epilepsy usually accompanied by a fever. It is common in infants and children, and generally includes febrile seizures (FS), febrile seizures plus (FS+), Dravet syndrome (DS) and genetic epilepsy with febrile seizures plus (GEFSP). The aetiology of FASE is unclear. Genetic factors may play crucial roles in FASE. Mutations in certain genes may cause a wide spectrum of phenotypical overlap ranging from isolated FS, FS+ and GEFSP to DS. Synapse-associated proteins, postsynaptic GABAAreceptor, and sodium channels play important roles in synaptic transmission. Mutations in these genes may involve in the pathogenesis of FASE. Elevated temperature promotes synaptic vesicle (SV) recycling and enlarges SV size, which may enhance synaptic transmission and contribute to FASE occurring. This review provides an overview of the loci, genes, underlying pathogenesis and the fever-inducing effect of FASE. It may provide a more comprehensive understanding of pathogenesis and contribute to the clinical diagnosis of FASE.

中文翻译：

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发热相关癫痫发作或癫痫的遗传学和分子生物学

与发热相关的癫痫发作或癫痫症 (FASE) 的主要特征是发生通常伴有发烧的癫痫发作或癫痫症。常见于婴儿和儿童，一般包括热性惊厥 (FS)、高热惊厥加 (FS+)、Dravet 综合征 (DS) 和遗传性癫痫伴高热惊厥 (GEFSP)。FASE 的病因尚不清楚。遗传因素可能在 FASE 中起关键作用。某些基因的突变可能导致广泛的表型重叠，范围从孤立的 FS、FS+ 和 GEFSP 到 DS。突触相关蛋白、突触后 GABA一种受体和钠通道在突触传递中起重要作用。这些基因的突变可能与 FASE 的发病机制有关。升高的温度促进突触小泡 (SV) 再循环并扩大 SV 大小，这可能会增强突触传递并有助于 FASE 的发生。本综述概述了 FASE 的位点、基因、潜在发病机制和发热诱导作用。它可以提供对发病机制更全面的认识，并有助于FASE的临床诊断。