Zhao Xu, Zongpu Zhou, Genfu Zhang, Jiaxin Zhuang, Yufen Li, Shuang Wang, Siqi Hong, Dan Sun, Jiong Qin, Zhixian Yang
{"title":"中国婴幼儿癫痫痉挛综合征的遗传学研究。","authors":"Zhao Xu, Zongpu Zhou, Genfu Zhang, Jiaxin Zhuang, Yufen Li, Shuang Wang, Siqi Hong, Dan Sun, Jiong Qin, Zhixian Yang","doi":"10.1111/dmcn.16435","DOIUrl":null,"url":null,"abstract":"<p><strong>Aim: </strong>To construct a genetic landscape of infantile epileptic spasms syndrome (IESS) and explore the pathogenic mechanisms of IESS-associated genes.</p><p><strong>Method: </strong>We conducted a nationwide, multicentre, retrospective study across six centres in China, enrolling patients with genetically confirmed IESS between January 2015 and January 2024. Additionally, we reviewed the existing literature, summarized the genetic landscape of IESS, and used bioinformatics approaches to investigate its pathophysiological features.</p><p><strong>Results: </strong>Our cohort included 430 probands with a genetic aetiology of IESS, with 394 of 430 (91.6%) carrying monogenic variants and 36 of 430 (8.4%) carrying copy number variants or chromosome abnormalities. A total of 168 genes were identified in 394 patients (219 males, 175 females; median age at epileptic spasms onset of 5.0 [interquartile range 3.0-7.0] months) with monogenic variants, including 14 genes that are not associated with any phenotypes in the Online Mendelian Inheritance in Man database. We compiled 354 IESS-associated genes from our cohort and the related literature. The functions of these genes are related to membrane potential, synaptic signalling, and several ion channel activities.</p><p><strong>Interpretation: </strong>We comprehensively mapped the genetic landscape of IESS and identified candidate pathogenic genes associated with the disorder.</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\":\"Genetics of infantile epileptic spasms syndrome in China.\",\"authors\":\"Zhao Xu, Zongpu Zhou, Genfu Zhang, Jiaxin Zhuang, Yufen Li, Shuang Wang, Siqi Hong, Dan Sun, Jiong Qin, Zhixian Yang\",\"doi\":\"10.1111/dmcn.16435\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Aim: </strong>To construct a genetic landscape of infantile epileptic spasms syndrome (IESS) and explore the pathogenic mechanisms of IESS-associated genes.</p><p><strong>Method: </strong>We conducted a nationwide, multicentre, retrospective study across six centres in China, enrolling patients with genetically confirmed IESS between January 2015 and January 2024. Additionally, we reviewed the existing literature, summarized the genetic landscape of IESS, and used bioinformatics approaches to investigate its pathophysiological features.</p><p><strong>Results: </strong>Our cohort included 430 probands with a genetic aetiology of IESS, with 394 of 430 (91.6%) carrying monogenic variants and 36 of 430 (8.4%) carrying copy number variants or chromosome abnormalities. A total of 168 genes were identified in 394 patients (219 males, 175 females; median age at epileptic spasms onset of 5.0 [interquartile range 3.0-7.0] months) with monogenic variants, including 14 genes that are not associated with any phenotypes in the Online Mendelian Inheritance in Man database. We compiled 354 IESS-associated genes from our cohort and the related literature. The functions of these genes are related to membrane potential, synaptic signalling, and several ion channel activities.</p><p><strong>Interpretation: </strong>We comprehensively mapped the genetic landscape of IESS and identified candidate pathogenic genes associated with the disorder.</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.16435\",\"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.16435","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Genetics of infantile epileptic spasms syndrome in China.
Aim: To construct a genetic landscape of infantile epileptic spasms syndrome (IESS) and explore the pathogenic mechanisms of IESS-associated genes.
Method: We conducted a nationwide, multicentre, retrospective study across six centres in China, enrolling patients with genetically confirmed IESS between January 2015 and January 2024. Additionally, we reviewed the existing literature, summarized the genetic landscape of IESS, and used bioinformatics approaches to investigate its pathophysiological features.
Results: Our cohort included 430 probands with a genetic aetiology of IESS, with 394 of 430 (91.6%) carrying monogenic variants and 36 of 430 (8.4%) carrying copy number variants or chromosome abnormalities. A total of 168 genes were identified in 394 patients (219 males, 175 females; median age at epileptic spasms onset of 5.0 [interquartile range 3.0-7.0] months) with monogenic variants, including 14 genes that are not associated with any phenotypes in the Online Mendelian Inheritance in Man database. We compiled 354 IESS-associated genes from our cohort and the related literature. The functions of these genes are related to membrane potential, synaptic signalling, and several ion channel activities.
Interpretation: We comprehensively mapped the genetic landscape of IESS and identified candidate pathogenic genes associated with the disorder.
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.
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