Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder: clinical review

CDKL5 deficiency disorder (CDD) is a developmental encephalopathy caused by pathogenic variants in the gene cyclin-dependent kinase-like 5 (CDKL5). This unique disorder includes early infantile onset refractory epilepsy, hypotonia, developmental intellectual and motor disabilities, and cortical visu...

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Detalhes bibliográficos
Publicado no:Pediatr Neurol
Main Authors: Olson, Heather E., Demarest, Scott T., Pestana-Knight, Elia M., Swanson, Lindsay C., Iqbal, Sumaiya, Lal, Dennis, Leonard, Helen, Cross, J. Helen, Devinsky, Orrin, Benke, Tim A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7120929/
https://ncbi.nlm.nih.gov/pubmed/30928302
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2019.02.015
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