Giovanni Battista Dell’Isola, K. Portwood, Kirsten Consing, Antonella Fattorusso, Arnaldo Bartocci, Pietro Ferrara, Giuseppe Di Cara, Alberto Verrotti, Mauro Lodolo
{"title":"Current Overview of CDKL-5 Deficiency Disorder Treatment","authors":"Giovanni Battista Dell’Isola, K. Portwood, Kirsten Consing, Antonella Fattorusso, Arnaldo Bartocci, Pietro Ferrara, Giuseppe Di Cara, Alberto Verrotti, Mauro Lodolo","doi":"10.3390/pediatric16010002","DOIUrl":null,"url":null,"abstract":"CDKL5 deficiency disorder (CDD) is a complex of clinical symptoms resulting from the presence of non-functional or absent CDKL5 protein, a serine–threonine kinase involved in neural maturation and synaptogenesis [...]","PeriodicalId":45251,"journal":{"name":"Pediatric Reports","volume":"41 13","pages":""},"PeriodicalIF":1.4000,"publicationDate":"2024-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3390/pediatric16010002","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
Abstract
CDKL5 deficiency disorder (CDD) is a complex of clinical symptoms resulting from the presence of non-functional or absent CDKL5 protein, a serine–threonine kinase involved in neural maturation and synaptogenesis [...]