Wang Jie, Lin Zhi-Jian, Liu Liu, Xu Hai-Qing, Shi Yi-Wu, Yi Yong-Hong, He Na, Liao Wei-Ping
Institute of Neuroscience and the Second Affiliated Hospital of Guangzhou Medical University, Guangzhou 510260, China; Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Guangzhou, China.
Institute of Neuroscience and the Second Affiliated Hospital of Guangzhou Medical University, Guangzhou 510260, China; Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Guangzhou, China; Department of Neurology, Affiliated Zhongda Hospital, School of Medicine, Southeast University, Nanjing, China.
Seizure. 2017 Jan;44:11-20. doi: 10.1016/j.seizure.2016.11.030. Epub 2016 Dec 6.
Development in genetic technology has led to the identification of an increasing number of genes associated with epilepsy. These discoveries will both provide the basis for including genetic tests in clinical practice and improve diagnosis and treatment of epilepsy. By searching through several databases (OMIM, HGMD, and EpilepsyGene) and recent publications on PubMed, we found 977 genes that are associated with epilepsy. We classified these genes into 4 categories according to the manifestation of epilepsy in phenotypes. We found 84 genes that are considered as epilepsy genes: genes that cause epilepsies or syndromes with epilepsy as the core symptom. 73 genes were listed as neurodevelopment-associated genes: genes associated with both brain-development malformations and epilepsy. Several genes (536) were epilepsy-related: genes associated with both physical or other systemic abnormalities and epilepsy or seizures. We found 284 additional genes putatively associated with epilepsy; this requires further verification. These integrated data will provide new insights useful for both including genetic tests in the clinical practice and evaluating the results of genetic tests. We also summarized the epilepsy-associated genes according to their function, with the goal to better characterize the association between genes and epilepsies and to further understand the mechanisms underlying epilepsy.
基因技术的发展已导致越来越多与癫痫相关的基因被识别出来。这些发现将为在临床实践中纳入基因检测提供基础，并改善癫痫的诊断和治疗。通过搜索多个数据库（OMIM、HGMD和EpilepsyGene）以及PubMed上的近期出版物，我们发现了977个与癫痫相关的基因。我们根据癫痫在表型中的表现将这些基因分为4类。我们发现84个基因被视为癫痫基因：即导致以癫痫为核心症状的癫痫或综合征的基因。73个基因被列为神经发育相关基因：即与脑发育畸形和癫痫均相关的基因。有几个基因（536个）是癫痫相关基因：即与身体或其他全身异常以及癫痫或发作均相关的基因。我们发现另外284个基因可能与癫痫相关；这需要进一步验证。这些整合的数据将为在临床实践中纳入基因检测以及评估基因检测结果提供有用的新见解。我们还根据其功能总结了癫痫相关基因，目的是更好地描述基因与癫痫之间的关联，并进一步了解癫痫的潜在机制。
