CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development

CDKL5 deficiency disorder (CDD) is an X-linked brain disorder of young children and is caused by pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene. Individuals with CDD suffer infantile onset, drug-resistant seizures, severe neurodevelopmental impairment and profound lifelong di...

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Detalles Bibliográficos
Autores principales: Van Bergen, Nicole J., Massey, Sean, Quigley, Anita, Rollo, Ben, Harris, Alexander R., Kapsa, Robert M.I., Christodoulou, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2022
Materias:
Review Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9444073/
https://www.ncbi.nlm.nih.gov/pubmed/35997111
http://dx.doi.org/10.1042/BST20220791

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9444073/
https://www.ncbi.nlm.nih.gov/pubmed/35997111
http://dx.doi.org/10.1042/BST20220791

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