PDF(Pubmed)
Abstract：
Variants in potassium channel-related genes are one of the most important mechanisms underlying abnormal neuronal excitation and disturbances in the cellular resting membrane potential. These variants can cause different forms of epilepsy, which can seriously affect the physical and mental health of patients, especially those with refractory epilepsy or status epilepticus, which are common among pediatric patients and are potentially life-threatening. Variants in potassium ion channel-related genes have been reported in few studies; however, to our knowledge, no systematic review has been published. This study aimed to summarize the epilepsy phenotypes, functional studies, and pharmacological advances associated with different potassium channel gene variants to assist clinical practitioners and drug development teams to develop evidence-based medicine and guide research strategies. PubMed and Google Scholar were searched for relevant literature on potassium channel-related epilepsy reported in the past 5-10 years. Various common potassium ion channel gene variants can lead to heterogeneous epilepsy phenotypes, and functional effects can result from gene deletions and compound effects. Administration of select anti-seizure medications is the primary treatment for this type of epilepsy. Most patients are refractory to anti-seizure medications, and some novel anti-seizure medications have been found to improve seizures. Use of targeted drugs to correct aberrant channel function based on the type of potassium channel gene variant can be used as an evidence-based pathway to achieve precise and individualized treatment for children with epilepsy. PLAIN LANGUAGE SUMMARY: In this article, the pathogenesis and clinical characteristics of epilepsy caused by different types of potassium channel gene variants are reviewed in the light of the latest research literature at home and abroad, with the expectation of providing a certain theoretical basis for the diagnosis and treatment of children with this type of disease.
摘要：
钾通道相关基因的变异是神经元异常兴奋和细胞静息膜电位紊乱的最重要机制之一。这些变异会导致不同形式的癫痫，会严重影响患者的身心健康，尤其是那些难治性癫痫或癫痫持续状态，这在儿科患者中很常见，并且可能危及生命。钾离子通道相关基因的变异在很少的研究中报道;然而，根据我们的知识，尚未发表系统综述.本研究旨在总结癫痫的表型,功能研究，以及与不同钾通道基因变异相关的药理学进展，以协助临床从业人员和药物开发团队开发循证医学并指导研究策略。检索PubMed和GoogleScholar近5-10年报道的钾通道相关性癫痫相关文献。各种常见的钾离子通道基因变异可导致异质性的癫痫表型，基因缺失和复合效应可能导致功能效应。选择抗癫痫药物的施用是这种类型癫痫的主要治疗方法。大多数患者对抗癫痫药物难以治疗，一些新型的抗癫痫药物被发现可以改善癫痫发作。根据钾通道基因变异的类型使用靶向药物纠正通道功能异常，可作为循证通路，实现小儿癫痫的精准化、个体化治疗。简单语言摘要：在本文中，结合国内外最新研究文献综述了不同类型钾通道基因变异导致癫痫的发病机制和临床特点,以期为该类疾病患儿的诊治提供一定的理论依据。
