Autosomal dominant POLR3B variants: Phenotypic continuum and perspectives on its role as an epilepsy gene.

{"title":"Autosomal dominant POLR3B variants: Phenotypic continuum and perspectives on its role as an epilepsy gene.","authors":"Angela De Dominicis, Fabrizia Stregapede, Marina Trivisano, Francesco Nicita, Jacopo Sartorelli, Francesca Piceci Sparascio, Alessandra Terracciano, Antonio Novelli, Nicola Specchio, Enrico Silvio Bertini, Vito Luigi Colona","doi":"10.1111/epi.18385","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":11768,"journal":{"name":"Epilepsia","volume":" ","pages":""},"PeriodicalIF":6.6000,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Epilepsia","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/epi.18385","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}