International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder

CDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a developmental and epileptic encephalopathy (DEE). The incidence is between ~ 1:40,000 and 1:60,000 live births. Pathogenic variants in CDKL5 lead to seizures from infancy and severe neurodevelopmental delay. During...

Descripción completa

Detalles Bibliográficos
Autores principales: Amin, Sam, Monaghan, Marie, Aledo-Serrano, Angel, Bahi-Buisson, Nadia, Chin, Richard F., Clarke, Angus J., Cross, J. Helen, Demarest, Scott, Devinsky, Orrin, Downs, Jenny, Pestana Knight, Elia M., Olson, Heather, Partridge, Carol-Anne, Stuart, Graham, Trivisano, Marina, Zuberi, Sameer, Benke, Tim A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9251467/
https://www.ncbi.nlm.nih.gov/pubmed/35795799
http://dx.doi.org/10.3389/fneur.2022.874695

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9251467/
https://www.ncbi.nlm.nih.gov/pubmed/35795799
http://dx.doi.org/10.3389/fneur.2022.874695

Ejemplares similares