IRF2BPL基因变异的神经学表型:四种新变异的报告。

IF 2.6 Q2 CLINICAL NEUROLOGY

Journal of Central Nervous System Disease Pub Date : 2023-01-01 DOI:10.1177/11795735231181467

Dafne Dain Gandelman Horovitz, Maria Angelica de Faria Domingues de Lima, Lais de Carvalho Pires, Abelardo de Queiroz Campos Araujo, Fernando Regla Vargas

{"title":"IRF2BPL基因变异的神经学表型:四种新变异的报告。","authors":"Dafne Dain Gandelman Horovitz, Maria Angelica de Faria Domingues de Lima, Lais de Carvalho Pires, Abelardo de Queiroz Campos Araujo, Fernando Regla Vargas","doi":"10.1177/11795735231181467","DOIUrl":null,"url":null,"abstract":"IRF2BPL gene variants have recently been associated to developmental disability and epilepsy in children and movement disorders in adults. So far, only few cases have been reported; here we present four novel cases identified by exome sequencing, while investigating developmental delay, adult-onset cerebellar ataxia or regression.","PeriodicalId":15218,"journal":{"name":"Journal of Central Nervous System Disease","volume":null,"pages":null},"PeriodicalIF":2.6000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/84/cc/10.1177_11795735231181467.PMC10280516.pdf","citationCount":"0","resultStr":"{\"title\":\"Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants.\",\"authors\":\"Dafne Dain Gandelman Horovitz, Maria Angelica de Faria Domingues de Lima, Lais de Carvalho Pires, Abelardo de Queiroz Campos Araujo, Fernando Regla Vargas\",\"doi\":\"10.1177/11795735231181467\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"IRF2BPL gene variants have recently been associated to developmental disability and epilepsy in children and movement disorders in adults. So far, only few cases have been reported; here we present four novel cases identified by exome sequencing, while investigating developmental delay, adult-onset cerebellar ataxia or regression.\",\"PeriodicalId\":15218,\"journal\":{\"name\":\"Journal of Central Nervous System Disease\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.6000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/84/cc/10.1177_11795735231181467.PMC10280516.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Central Nervous System Disease\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1177/11795735231181467\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Central Nervous System Disease","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/11795735231181467","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}

引用次数: 0

摘要

最近发现，IRF2BPL基因变异与儿童发育障碍和癫痫以及成人运动障碍有关。到目前为止，只报告了少数病例;在这里，我们通过外显子组测序鉴定了四个新病例，同时调查了发育迟缓，成人发作的小脑性共济失调或退化。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants.

查看原文本刊更多论文

Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants.

IRF2BPL gene variants have recently been associated to developmental disability and epilepsy in children and movement disorders in adults. So far, only few cases have been reported; here we present four novel cases identified by exome sequencing, while investigating developmental delay, adult-onset cerebellar ataxia or regression.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Journal of Central Nervous System Disease CLINICAL NEUROLOGY-

CiteScore

6.90

自引率

0.00%

发文量

审稿时长

8 weeks