Epilepsy-associated genes: an update
Epilepsy-associated genes: an update
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DOI：
10.1016/j.seizure.2023.09.021
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发表时间：
2024-04-05
影响因子：
3
通讯作者：
Liao，Wei-Ping
中科院分区：
文献类型：
--
作者：
Zhang，Meng -Wen;Liang，Xiao-Yu;Liao，Wei-Ping
目的根据临床遗传学证据，提供最新的癫痫相关基因列表。方法对截至2023年7月的OMIM、HGMD和PubMed数据库中癫痫相关基因进行系统检索和交叉比对。为了便于对临床中可能常见的癫痫相关基因进行参考，根据HGMD数据库中的突变数和中国癫痫基因1.0项目中针对常见癫痫的病例数对癫痫相关基因进行排序。结果基于OMIM数据库，鉴定出1506个与癫痫相关的基因，并根据其与癫痫或其他异常表型的潜在关联将其分为三类，其中与癫痫作为纯粹或核心症状相关的癫痫基因168个，与神经发育障碍作为主要症状和癫痫相关的基因364个；974个癫痫相关基因与伴随癫痫/发作的总体身体/全身异常相关。癫痫基因中与癫痫性脑病相关的基因有115个，占68.5%。在与HGMD和PubMed数据库交叉核对后，又有1440个基因被列为潜在的癫痫相关基因，其中278个基因已在癫痫患者中反复发现变异。列出HGMD数据库和中国癫痫基因1.0项目中报告/鉴定频次最高的100个癫痫相关基因，其中40个基因在两个来源中完全相同。意义对癫痫相关基因的认识有助于癫痫的遗传筛查，有助于临床对癫痫进行精确的分子诊断和治疗。
PurposeTo provide an updated list of epilepsy-associated genes based on clinical-genetic evidence.MethodsEpilepsy-associated genes were systematically searched and cross-checked from the OMIM, HGMD, and PubMed databases up to July 2023. To facilitate the reference for the epilepsy-associated genes that are potentially common in clinical practice, the epilepsy-associated genes were ranked by the mutation number in the HGMD database and by case number in the China Epilepsy Gene 1.0 project, which targeted common epilepsy.ResultsBased on the OMIM database, 1506 genes were identified to be associated with epilepsy and were classified into three categories according to their potential association with epilepsy or other abnormal phenotypes, including 168 epilepsy genes that were associated with epilepsies as pure or core symptoms, 364 genes that were associated with neurodevelopmental disorders as the main symptom and epilepsy, and 974 epilepsy-related genes that were associated with gross physical/systemic abnormalities accompanied by epilepsy/seizures. Among the epilepsy genes, 115 genes (68.5%) were associated with epileptic encephalopathy. After cross-checking with the HGMD and PubMed databases, an additional 1440 genes were listed as potential epilepsy-associated genes, of which 278 genes have been repeatedly identified variants in patients with epilepsy. The top 100 frequently reported/identified epilepsy-associated genes from the HGMD database and the China Epilepsy Gene 1.0 project were listed, among which 40 genes were identical in both sources.SignificanceRecognition of epilepsy-associated genes will facilitate genetic screening strategies and be helpful for precise molecular diagnosis and treatment of epilepsy in clinical practice.