KCNQ3基因变异与癫痫及相关神经系统疾病的研究进展
Research Progress on KCNQ3 Gene Variants and Epilepsy as Well as Related Neurological Diseases
DOI: 10.12677/acm.2026.163816, PDF,   
作者: 高群婷, 葛 玲：济宁医学院临床医学院(附属医院)，山东 济宁；杨 灿, 李秋波：济宁医学院附属医院儿科，山东 济宁
关键词: KCNQ3基因；KV7.3钾通道；癫痫；致病机制；KCNQ3 Gene； Kv7.3 Potassium Channel； Epilepsy； Pathogenic Mechanism
摘要: KCNQ3基因编码电压门控钾通道亚基Kv7.3，其与Kv7.2亚基共同组装形成神经元M型钾通道(Kv7.2/7.3)，在调控神经元兴奋性和维持神经网络稳定性中发挥重要作用。近年来，随着基因检测技术的应用，KCNQ3基因变异在多种癫痫综合征中的致病作用逐渐明确，相关表型涵盖良性自限性癫痫、全面性癫痫伴热性惊厥附加症以及癫痫性脑病等。不同类型的KCNQ3变异可通过影响M通道电流密度、电压依赖性及亚基组装效率，导致神经元过度兴奋，从而引发癫痫发作。此外，Kv7.2/7.3通道也是多种抗癫痫药物的重要作用靶点，KCNQ3基因型与药物反应之间的关系为精准治疗提供了理论依据。本文综述KCNQ3基因的结构与功能特点，总结其与癫痫及相关神经系统疾病的分子机制、临床表型和治疗研究进展，以期为临床诊疗和基础研究提供参考。
Abstract: The KCNQ3 gene encodes the voltage-gated potassium channel subunit Kv7.3, which assembles with the Kv7.2 subunit to form the neuronal M-type potassium channel (Kv7.2/7.3). This channel plays a crucial role in regulating neuronal excitability and maintaining the stability of neural networks. In recent years, with the application of genetic testing technologies, the pathogenic role of KCNQ3 gene variants in various epilepsy syndromes has been gradually clarified, and the related phenotypes include benign self-limited epilepsy, generalized epilepsy with febrile seizures plus, and epileptic encephalopathy, among others. Different types of KCNQ3 variants can induce neuronal hyperexcitability by affecting the current density, voltage dependence, and subunit assembly efficiency of M-channels, thereby triggering epileptic seizures. In addition, the Kv7.2/7.3 channel is an important therapeutic target for a variety of antiepileptic drugs, and the correlation between KCNQ3 genotypes and drug responses provides a theoretical basis for precision treatment. This paper reviews the structural and functional characteristics of the KCNQ3 gene, and summarizes the research progress in its molecular mechanisms, clinical phenotypes and therapeutic strategies associated with epilepsy and related neurological diseases, aiming to provide a reference for clinical diagnosis, treatment and basic research.
文章引用：高群婷, 葛玲, 杨灿, 李秋波. KCNQ3基因变异与癫痫及相关神经系统疾病的研究进展[J]. 临床医学进展, 2026, 16(3): 500-506. https://doi.org/10.12677/acm.2026.163816

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