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...

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Publicado en:Pediatr Neurol
Autores principales: 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.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2019
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Article
Acceso en línea: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
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