Yang Yufang, Tuo Jinmei, Zhang Jun, Xu Zucai, Luo Zhong
Department of Neurology, Affiliated Hospital of Zunyi Medical University, Zunyi, China.
Department of Nursing, Affiliated Hospital of Zunyi Medical University, Zunyi, China.
Front Neurol. 2024 Jun 20;15:1416648. doi: 10.3389/fneur.2024.1416648. eCollection 2024.
Sleep-related hypermotor epilepsy (SHE) is a focal epilepsy syndrome characterized by a variable age of onset and heterogeneous etiology. Current literature suggests a prevalence rate of approximately 1.8 per 100,000 persons. The discovery of additional pathogenic genes associated with SHE in recent years has significantly expanded the knowledge and understanding of its pathophysiological mechanisms. Identified SHE pathogenic genes include those related to neuronal ligand- and ion-gated channels (, and ), genes upstream of the mammalian target of rapamycin complex 1 signal transduction pathway (, , , , and ), and other genes (, , , and ). These genes encode proteins associated with ion channels, neurotransmitter receptors, cell signal transduction, and synaptic transmission. Mutations in these genes can result in the dysregulation of encoded cellular functional proteins and downstream neuronal dysfunction, ultimately leading to epileptic seizures. However, the associations between most genes and the SHE phenotype remain unclear. This article presents a literature review on the research progress of SHE-related pathogenic genes to contribute evidence to genotype-phenotype correlations in SHE and establish the necessary theoretical basis for future SHE treatments.
睡眠相关性运动过多性癫痫（SHE）是一种局灶性癫痫综合征，其发病年龄不一，病因多样。目前的文献表明，其患病率约为每10万人中有1.8例。近年来，与SHE相关的其他致病基因的发现显著扩展了对其病理生理机制的认识和理解。已确定的SHE致病基因包括与神经元配体门控和离子门控通道相关的基因（……）、雷帕霉素复合物1信号转导途径哺乳动物靶点上游的基因（……）以及其他基因（……）。这些基因编码与离子通道、神经递质受体、细胞信号转导和突触传递相关的蛋白质。这些基因的突变可导致编码的细胞功能蛋白失调和下游神经元功能障碍，最终引发癫痫发作。然而，大多数基因与SHE表型之间的关联仍不明确。本文对SHE相关致病基因的研究进展进行文献综述，为SHE的基因型-表型相关性提供证据，并为未来SHE的治疗奠定必要的理论基础。
