癫痫的遗传学。

IF 2.7 4区 医学 Q2 MEDICINE, RESEARCH & EXPERIMENTAL
Experimental Biology and Medicine Pub Date : 2026-03-19 eCollection Date: 2026-01-01 DOI:10.3389/ebm.2026.10933
Kynen Piacentini, Athanasios Gaitatzis, Sulev Kõks
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引用次数: 0

摘要

癫痫是世界上最常见的神经系统疾病之一,但它也很复杂,很难研究。癫痫有重要的遗传因素,更多的信息正在频繁发表。很难以一种对研究人员和临床医生都有益的方式对所有这些信息进行分组和总结。本文的目的是创建一个总结所有目前已知的癫痫相关基因,以帮助癫痫研究,以更好地了解疾病的病因。这是通过从三个数据库收集基因数据来实现的:在线孟德尔人类遗传(OMIM)、临床基因组(ClinGen)和PubMed。根据特定标准对基因进行筛选,汇总为三个表:癫痫基因、癫痫相关基因和预测癫痫相关基因。第四个表显示了在所有三个数据库中确定的所有癫痫基因。共有2536个基因被确定与癫痫有一定程度的关联。其中,癫痫基因238个,癫痫相关基因1317个,预测癫痫基因981个。最后,86个基因被确定为癫痫基因,这些基因在所有三个基因数据库中都被发现,代表了与癫痫相关的最高可信度。这项研究的意义在于,它能够为研究人员提供一份与癫痫有关的基因的最新清单,以及有关这些基因的信息摘要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetics of epilepsy.

Epilepsy is one of the most common neurological diseases in the world, but it is also complex and difficult to study. There is a significant genetic component to epilepsy and more information is being published frequently. It is difficult to group and summarise all of this information in a way that is beneficial for both researchers and clinicians. The aim of this paper is to create a summary of all currently known epilepsy associated genes in order to aid epilepsy research to better understand the aetiology of the disease. This was achieved through gathering genetic data from three databases: Online Mendelian Inheritance in Man (OMIM), Clincal Genome (ClinGen), and PubMed. Genes were filtered based on specific criteria and were summarised into three tables: Epilepsy genes, Epilepsy associated genes and Predicted epilepsy associated genes. A fourth table was produced to showcase all epilepsy genes that were identified in all three databases. A total of 2,536 genes were identified to have some level of association with epilepsy. A total of 238 genes were classified as Epilepsy genes, 1,317 genes were classified as Epilepsy associated genes and 981 genes were classified as Predicted epilepsy genes. Finally, 86 genes were identified to be epilepsy genes that were found in all three genetic databases and represent the highest confidence in association with epilepsy. The significance of this study involves the ability to give researchers an up-to-date list of genes that have an association to epilepsy and a summary of information about said genes.

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来源期刊
Experimental Biology and Medicine
Experimental Biology and Medicine 医学-医学:研究与实验
CiteScore
6.00
自引率
0.00%
发文量
157
审稿时长
1 months
期刊介绍: Experimental Biology and Medicine (EBM) is a global, peer-reviewed journal dedicated to the publication of multidisciplinary and interdisciplinary research in the biomedical sciences. EBM provides both research and review articles as well as meeting symposia and brief communications. Articles in EBM represent cutting edge research at the overlapping junctions of the biological, physical and engineering sciences that impact upon the health and welfare of the world''s population. Topics covered in EBM include: Anatomy/Pathology; Biochemistry and Molecular Biology; Bioimaging; Biomedical Engineering; Bionanoscience; Cell and Developmental Biology; Endocrinology and Nutrition; Environmental Health/Biomarkers/Precision Medicine; Genomics, Proteomics, and Bioinformatics; Immunology/Microbiology/Virology; Mechanisms of Aging; Neuroscience; Pharmacology and Toxicology; Physiology; Stem Cell Biology; Structural Biology; Systems Biology and Microphysiological Systems; and Translational Research.
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