{"title":"基因组学和癫痫:提高认识和管理的机会。","authors":"Sanjay M Sisodiya","doi":"10.1111/dmcn.16472","DOIUrl":null,"url":null,"abstract":"<p><p>Genomics has advanced our understanding of epilepsy through the discovery of the causes of many hundreds of different individual syndromes and the discovery of common variants contributing to the epilepsy risk. Many genomic research studies and clinical genetic laboratories now use advanced sequencing methods, including whole-genome sequencing studies. Such work generates significant amounts of data beyond a possible causal variant alone and can contain information about more complicated genomic contributions to the phenotype, including oligogenic and polygenic influences, modifiers, risk factors for traits such as postictal psychosis, and pharmacogenomic variants of importance to adverse reactions. Extraction of such data will help improve the characterization of each individual's epilepsy, potentially from diagnosis onwards. Newer methods, such as single-cell studies and combinations of genomic data with other data types are now being used. Genomics may also help protect people with epilepsy from climate change challenges. Opportunities from genomics will continue to enhance our understanding and management of epilepsy.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":4.3000,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Genomics and epilepsy: Opportunities to improve understanding and management.\",\"authors\":\"Sanjay M Sisodiya\",\"doi\":\"10.1111/dmcn.16472\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Genomics has advanced our understanding of epilepsy through the discovery of the causes of many hundreds of different individual syndromes and the discovery of common variants contributing to the epilepsy risk. Many genomic research studies and clinical genetic laboratories now use advanced sequencing methods, including whole-genome sequencing studies. Such work generates significant amounts of data beyond a possible causal variant alone and can contain information about more complicated genomic contributions to the phenotype, including oligogenic and polygenic influences, modifiers, risk factors for traits such as postictal psychosis, and pharmacogenomic variants of importance to adverse reactions. Extraction of such data will help improve the characterization of each individual's epilepsy, potentially from diagnosis onwards. Newer methods, such as single-cell studies and combinations of genomic data with other data types are now being used. Genomics may also help protect people with epilepsy from climate change challenges. Opportunities from genomics will continue to enhance our understanding and management of epilepsy.</p>\",\"PeriodicalId\":50587,\"journal\":{\"name\":\"Developmental Medicine and Child Neurology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":4.3000,\"publicationDate\":\"2025-08-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Developmental Medicine and Child Neurology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1111/dmcn.16472\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Developmental Medicine and Child Neurology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/dmcn.16472","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Genomics and epilepsy: Opportunities to improve understanding and management.
Genomics has advanced our understanding of epilepsy through the discovery of the causes of many hundreds of different individual syndromes and the discovery of common variants contributing to the epilepsy risk. Many genomic research studies and clinical genetic laboratories now use advanced sequencing methods, including whole-genome sequencing studies. Such work generates significant amounts of data beyond a possible causal variant alone and can contain information about more complicated genomic contributions to the phenotype, including oligogenic and polygenic influences, modifiers, risk factors for traits such as postictal psychosis, and pharmacogenomic variants of importance to adverse reactions. Extraction of such data will help improve the characterization of each individual's epilepsy, potentially from diagnosis onwards. Newer methods, such as single-cell studies and combinations of genomic data with other data types are now being used. Genomics may also help protect people with epilepsy from climate change challenges. Opportunities from genomics will continue to enhance our understanding and management of epilepsy.
期刊介绍:
Wiley-Blackwell is pleased to publish Developmental Medicine & Child Neurology (DMCN), a Mac Keith Press publication and official journal of the American Academy for Cerebral Palsy and Developmental Medicine (AACPDM) and the British Paediatric Neurology Association (BPNA).
For over 50 years, DMCN has defined the field of paediatric neurology and neurodisability and is one of the world’s leading journals in the whole field of paediatrics. DMCN disseminates a range of information worldwide to improve the lives of disabled children and their families. The high quality of published articles is maintained by expert review, including independent statistical assessment, before acceptance.