Loss of CDKL5 Causes Synaptic GABAergic Defects That Can Be Restored with the Neuroactive Steroid Pregnenolone-Methyl-Ether

CDKL5 deficiency disorder (CDD) is an X-linked neurodevelopmental disorder characterised by early-onset drug-resistant epilepsy and impaired cognitive and motor skills. CDD is caused by mutations in cyclin-dependent kinase-like 5 (CDKL5), which plays a well-known role in regulating excitatory neurot...

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Detalles Bibliográficos
Autores principales: De Rosa, Roberta, Valastro, Serena, Cambria, Clara, Barbiero, Isabella, Puricelli, Carolina, Tramarin, Marco, Randi, Silvia, Bianchi, Massimiliano, Antonucci, Flavia, Kilstrup-Nielsen, Charlotte
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9820583/
https://www.ncbi.nlm.nih.gov/pubmed/36613509
http://dx.doi.org/10.3390/ijms24010068

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9820583/
https://www.ncbi.nlm.nih.gov/pubmed/36613509
http://dx.doi.org/10.3390/ijms24010068

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