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

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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Bibliographic Details
Main Authors: Roberta De Rosa, Serena Valastro, Clara Cambria, Isabella Barbiero, Carolina Puricelli, Marco Tramarin, Silvia Randi, Massimiliano Bianchi, Flavia Antonucci, Charlotte Kilstrup-Nielsen
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:International Journal of Molecular Sciences
Subjects:
CDKL5
inhibitory synapse
gephyrin
collybistin
GABAA receptor
pregnenolone-methyl-ether
Online Access:https://www.mdpi.com/1422-0067/24/1/68

Internet

https://www.mdpi.com/1422-0067/24/1/68

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