Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A 5W9, Canada.
Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.
Int J Mol Sci. 2023 Sep 27;24(19):14606. doi: 10.3390/ijms241914606.
Epilepsy is a highly prevalent neurological disorder, affecting between 5-8 per 1000 individuals and is associated with a lifetime risk of up to 3%. In addition to high incidence, epilepsy is a highly heterogeneous disorder, with variation including, but not limited to the following: severity, age of onset, type of seizure, developmental delay, drug responsiveness, and other comorbidities. Variable phenotypes are reflected in a range of etiologies including genetic, infectious, metabolic, immune, acquired/structural (resulting from, for example, a severe head injury or stroke), or idiopathic. This review will focus specifically on epilepsies with a genetic cause, genetic testing, and biomarkers in epilepsy.
癫痫是一种高发的神经系统疾病，每 1000 个人中就有 5-8 个人受到影响，终生发病风险高达 3%。除了高发病率，癫痫还是一种高度异质性的疾病，其变异包括但不限于以下几个方面：严重程度、发病年龄、发作类型、发育迟缓、药物反应性以及其他合并症。不同的表型反映在一系列病因中，包括遗传、感染、代谢、免疫、获得性/结构性（例如，严重的头部损伤或中风导致）或特发性病因。这篇综述将特别关注有遗传原因、基因检测和生物标志物的癫痫。
