title: EpilepsyGene: a genetic resource for genes and mutations related to epilepsy.
abstract: Epilepsy is one of the most prevalent chronic neurological disorders, afflicting about 3.5-6.5 per 1000 children and 10.8 per 1000 elderly people. With intensive effort made during the last two decades, numerous genes and mutations have been published to be associated with the disease. An organized resource integrating and annotating the ever-increasing genetic data will be imperative to acquire a global view of the cutting-edge in epilepsy research. Herein, we developed EpilepsyGene (http://61.152.91.49/EpilepsyGene). It contains cumulative to date 499 genes and 3931 variants associated with 331 clinical phenotypes collected from 818 publications. Furthermore, in-depth data mining was performed to gain insights into the understanding of the data, including functional annotation, gene prioritization, functional analysis of prioritized genes and overlap analysis focusing on the comorbidity. An intuitive web interface to search and browse the diversified genetic data was also developed to facilitate access to the data of interest. In general, EpilepsyGene is designed to be a central genetic database to provide the research community substantial convenience to uncover the genetic basis of epilepsy.
authors.affiliation: Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325000, China.
authors.forename: Xia
authors.initials: X
authors.lastname: Ran
authors.affiliation: Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325000, China.
authors.forename: Jinchen
authors.initials: J
authors.lastname: Li
authors.affiliation: Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325000, China.
authors.forename: Qianzhi
authors.initials: Q
authors.lastname: Shao
authors.affiliation: Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325000, China.
authors.forename: Huiqian
authors.initials: H
authors.lastname: Chen
authors.affiliation: Department of Pediatric Neurology, The Second Affiliated & Yuying Children's Hospital, Wenzhou Medical University, Wenzhou 325000, China.
authors.forename: Zhongdong
authors.initials: Z
authors.lastname: Lin
authors.affiliation: Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325000, China Beijing Institutes of Life Science, Chinese Academy of Science, Beijing 100101, China sunzs@mail.biols.ac.cn.
authors.forename: Zhong Sheng
authors.initials: ZS
authors.lastname: Sun
authors.affiliation: Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325000, China Beijing Institutes of Life Science, Chinese Academy of Science, Beijing 100101, China sunzs@mail.biols.ac.cn.
authors.forename: Jinyu
authors.initials: J
authors.lastname: Wu
mesh_terms: D015897:Comorbidity; D030561:Databases, Nucleic Acid; D004827:Epilepsy / Q000453:epidemiology / Q000235:genetics*; D053263:Gene Regulatory Networks; D005796:Genes; D006801:Humans; D020407:Internet; D058977:Molecular Sequence Annotation; D009154:Mutation