遗传癫痫中的复杂性：全面综述。
Complexity in Genetic Epilepsies: A Comprehensive Review.
机构信息
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.
出版信息
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。
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