Douglas R Nordli, Chethan K Rao, Antonio V Delgado-Escueta, Fernando Galan
{"title":"A Novel Mutation in Lafora Disease and Update on Pathophysiology and Future Treatments.","authors":"Douglas R Nordli, Chethan K Rao, Antonio V Delgado-Escueta, Fernando Galan","doi":"10.1177/2329048X221126361","DOIUrl":null,"url":null,"abstract":"<p><p>Lafora disease is a rare refractory epilepsy that results in death. This report highlights two cases of lafora disease and introduces a novel mutation in the patients. A review of the pathophysiology and future therapies is reviewed.</p>","PeriodicalId":72572,"journal":{"name":"Child neurology open","volume":" ","pages":"2329048X221126361"},"PeriodicalIF":0.0000,"publicationDate":"2022-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/76/a5/10.1177_2329048X221126361.PMC9537485.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Child neurology open","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/2329048X221126361","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Lafora disease is a rare refractory epilepsy that results in death. This report highlights two cases of lafora disease and introduces a novel mutation in the patients. A review of the pathophysiology and future therapies is reviewed.