Severity Assessment in CDKL5 Deficiency Disorder

BACKGROUND: Pathological mutations in cyclin-dependent kinase-like 5 cause CDKL5 deficiency disorder (CDD), a genetic syndrome associated with severe epilepsy, cognitive, motor, visual and autonomic disturbances. CDD is a relatively common genetic cause of early-life epilepsy. A specific severity as...

全面介紹

Na minha lista:
書目詳細資料
發表在:Pediatr Neurol
Main Authors: Demarest, Scott, Pestana-Knight, Elia M., Olson, Heather E., Downs, Jenny, Marsh, Eric D., Kaufmann, Walter E., Partridge, Carol-Anne, Leonard, Helen, Gwadry-Sridhar, Femida, Frame, Katheryn Elibri, Cross, J. Helen, Chin, Richard F.M., Parikh, Sumit, Panzer, Axel, Weisenberg, Judith, Utley, Karen, Jaksha, Amanda, Amin, Sam, Khwaja, Omar, Devinsky, Orrin, Neul, Jeffery L., Percy, Alan K., Benke, Tim A.
格式: Artigo
語言:Inglês
出版: 2019
主題:
Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6659999/
https://ncbi.nlm.nih.gov/pubmed/31147226
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2019.03.017
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!

相似書籍