Giulietta M Riboldi, Edoardo Monfrini, Christine Stahl, Steven J Frucht
{"title":"NUS1与癫痫-肌阵挛-共济失调综合征:一个未被认识的实体?","authors":"Giulietta M Riboldi, Edoardo Monfrini, Christine Stahl, Steven J Frucht","doi":"10.5334/tohm.696","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Variants of the <i>NUS1</i> gene have recently been linked to a spectrum of phenotypes including epilepsy, cerebellar ataxia, cortical myoclonus and intellectual disability (ID), and primary congenital defects of glycosylation.</p><p><strong>Case report: </strong>We report a case of myoclonus epilepsy, mild cerebellar ataxia, and ID due to a new de-novo <i>NUS1</i> missense variant (c.868C>T, p.R290C), and review the current literature of <i>NUS1</i>-associated clinical phenotypes.</p><p><strong>Discussion: </strong>Pathogenic variants of <i>NUS1</i> are found in a rapidly growing number of cases diagnosed with myoclonus epilepsy and/or myoclonus-ataxia syndrome. <i>NUS1</i> should be included in the genetic screening of undiagnosed forms of myoclonus, myoclonus-ataxia, and progressive myoclonus epilepsies.</p>","PeriodicalId":23317,"journal":{"name":"Tremor and Other Hyperkinetic Movements","volume":" ","pages":"21"},"PeriodicalIF":2.5000,"publicationDate":"2022-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9205445/pdf/","citationCount":"3","resultStr":"{\"title\":\"<i>NUS1</i> and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity?\",\"authors\":\"Giulietta M Riboldi, Edoardo Monfrini, Christine Stahl, Steven J Frucht\",\"doi\":\"10.5334/tohm.696\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Variants of the <i>NUS1</i> gene have recently been linked to a spectrum of phenotypes including epilepsy, cerebellar ataxia, cortical myoclonus and intellectual disability (ID), and primary congenital defects of glycosylation.</p><p><strong>Case report: </strong>We report a case of myoclonus epilepsy, mild cerebellar ataxia, and ID due to a new de-novo <i>NUS1</i> missense variant (c.868C>T, p.R290C), and review the current literature of <i>NUS1</i>-associated clinical phenotypes.</p><p><strong>Discussion: </strong>Pathogenic variants of <i>NUS1</i> are found in a rapidly growing number of cases diagnosed with myoclonus epilepsy and/or myoclonus-ataxia syndrome. <i>NUS1</i> should be included in the genetic screening of undiagnosed forms of myoclonus, myoclonus-ataxia, and progressive myoclonus epilepsies.</p>\",\"PeriodicalId\":23317,\"journal\":{\"name\":\"Tremor and Other Hyperkinetic Movements\",\"volume\":\" \",\"pages\":\"21\"},\"PeriodicalIF\":2.5000,\"publicationDate\":\"2022-06-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9205445/pdf/\",\"citationCount\":\"3\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Tremor and Other Hyperkinetic Movements\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5334/tohm.696\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2022/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Tremor and Other Hyperkinetic Movements","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5334/tohm.696","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity?
Background: Variants of the NUS1 gene have recently been linked to a spectrum of phenotypes including epilepsy, cerebellar ataxia, cortical myoclonus and intellectual disability (ID), and primary congenital defects of glycosylation.
Case report: We report a case of myoclonus epilepsy, mild cerebellar ataxia, and ID due to a new de-novo NUS1 missense variant (c.868C>T, p.R290C), and review the current literature of NUS1-associated clinical phenotypes.
Discussion: Pathogenic variants of NUS1 are found in a rapidly growing number of cases diagnosed with myoclonus epilepsy and/or myoclonus-ataxia syndrome. NUS1 should be included in the genetic screening of undiagnosed forms of myoclonus, myoclonus-ataxia, and progressive myoclonus epilepsies.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
