[HTML][HTML] A GABAB receptor antagonist rescues functional and structural impairments in the perirhinal cortex of a mouse model of CDKL5 deficiency disorder

L Gennaccaro, C Fuchs, M Loi, V Roncacè… - Neurobiology of …, 2021 - Elsevier
Abstract CDKL5 (cyclin-dependent kinase-like 5) deficiency disorder (CDD) is a severe
neurodevelopmental encephalopathy characterized by early-onset epilepsy and intellectual …

Functional and structural impairments in the perirhinal cortex of a mouse model of CDKL5 deficiency disorder are rescued by a TrkB agonist

E Ren, V Roncacé, S Trazzi, C Fuchs… - Frontiers in Cellular …, 2019 - frontiersin.org
Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a severe X-linked
neurodevelopmental encephalopathy caused by mutations in the CDKL5 gene and …

[HTML][HTML] Early-onset brain alterations during postnatal development in a mouse model of CDKL5 deficiency disorder

M Tassinari, B Uguagliati, S Trazzi, CB Cerchier… - Neurobiology of …, 2023 - Elsevier
Mutations in the CDKL5 gene are the cause of CDKL5 deficiency disorder (CDD), a rare and
severe neurodevelopmental condition characterized by early-onset epilepsy, motor …

Site-specific abnormalities in the visual system of a mouse model of CDKL5 deficiency disorder

L Lupori, G Sagona, C Fuchs, R Mazziotti… - Human Molecular …, 2019 - academic.oup.com
CDKL5 deficiency disorder (CDD) is a neurodevelopmental disorder characterized by a
severe global developmental delay and early-onset seizures. Notably, patients show …

CDKL5 deficiency augments inhibitory input into the dentate gyrus that can be reversed by deep brain stimulation

S Hao, Q Wang, B Tang, Z Wu, T Yang… - Journal of …, 2021 - Soc Neuroscience
Cognitive impairment is a core feature of cyclin-dependent kinase-like 5 (CDKL5) deficiency,
a neurodevelopmental disorder characterized by early epileptic seizures, intellectual …

CDKL5 deficiency in adult glutamatergic neurons alters synaptic activity and causes spontaneous seizures via TrkB signaling

ZA Zhu, YY Li, J Xu, H Xue, X Feng, YC Zhu, ZQ Xiong - Cell Reports, 2023 - cell.com
CDKL5 deficiency disorder (CDD) is a severe epileptic encephalopathy resulting from
pathological mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene …

AMPA receptor dysregulation and therapeutic interventions in a mouse model of CDKL5 deficiency disorder

M Yennawar, RS White, FE Jensen - Journal of Neuroscience, 2019 - Soc Neuroscience
Pathogenic mutations in cyclin-dependent kinase-like 5 (CDKL5) result in CDKL5 deficiency
disorder (CDD), a rare disease marked by early-life seizures, autistic behaviors, and …

CDKL5 deficiency in forebrain glutamatergic neurons results in recurrent spontaneous seizures

HT Wang, ZA Zhu, YY Li, SS Lou, G Yang, X Feng… - …, 2021 - Wiley Online Library
Objective Mutations of the cyclin‐dependent kinase‐like 5 (CDKL5) gene cause severe
neurodevelopmental disorders characterized by intractable epilepsy, intellectual disability …

Loss of CDKL5 causes synaptic GABAergic defects that can be restored with the neuroactive steroid pregnenolone-methyl-ether

R De Rosa, S Valastro, C Cambria, I Barbiero… - International Journal of …, 2022 - mdpi.com
CDKL5 deficiency disorder (CDD) is an X-linked neurodevelopmental disorder
characterised by early-onset drug-resistant epilepsy and impaired cognitive and motor skills …

CDKL5 knockout leads to altered inhibitory transmission in the cerebellum of adult mice

S Sivilia, C Mangano, S Beggiato… - Genes, Brain and …, 2016 - Wiley Online Library
Mutations in the X‐linked cyclin‐dependent kinase‐like 5 gene (CDKL5) are associated to
severe neurodevelopmental alterations including motor symptoms. In order to elucidate the …