Cyclin-dependent kinase-like 5 deficiency disorder: clinical review

HE Olson, ST Demarest, EM Pestana-Knight… - Pediatric …, 2019 - Elsevier
Abstract Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a
developmental encephalopathy caused by pathogenic variants in the gene CDKL5. This …

The emerging picture of autism spectrum disorder: genetics and pathology

JA Chen, O Peñagarikano, TG Belgard… - Annual Review of …, 2015 - annualreviews.org
Autism spectrum disorder (ASD) is defined by impaired social interaction and
communication accompanied by stereotyped behaviors and restricted interests. Although …

Astrocytes derived from ASD individuals alter behavior and destabilize neuronal activity through aberrant Ca2+ signaling

M Allen, BS Huang, MJ Notaras, A Lodhi… - Molecular …, 2022 - nature.com
The cellular mechanisms of autism spectrum disorder (ASD) are poorly understood.
Cumulative evidence suggests that abnormal synapse function underlies many features of …

[HTML][HTML] The gut-brain connection: Exploring the influence of the gut microbiota on neuroplasticity and neurodevelopmental disorders

F Damiani, S Cornuti, P Tognini - Neuropharmacology, 2023 - Elsevier
Neuroplasticity refers to the ability of brain circuits to reorganize and change the properties
of the network, resulting in alterations in brain function and behavior. It is traditionally …

Temporal manipulation of Cdkl5 reveals essential postdevelopmental functions and reversible CDKL5 deficiency disorder–related deficits

B Terzic, MF Davatolhagh, Y Ho, S Tang… - The Journal of …, 2021 - Am Soc Clin Investig
CDKL5 deficiency disorder (CDD) is an early onset, neurodevelopmental syndrome
associated with pathogenic variants in the X-linked gene encoding cyclin-dependent kinase …

Mapping pathological phenotypes in a mouse model of CDKL5 disorder

E Amendola, Y Zhan, C Mattucci, E Castroflorio… - PloS one, 2014 - journals.plos.org
Mutations in cyclin-dependent kinase-like 5 (CDKL5) cause early-onset epileptic
encephalopathy, a neurodevelopmental disorder with similarities to Rett Syndrome. Here we …

Altered network and rescue of human neurons derived from individuals with early-onset genetic epilepsy

PD Negraes, CA Trujillo, NK Yu, W Wu, H Yao… - Molecular …, 2021 - nature.com
Early-onset epileptic encephalopathies are severe disorders often associated with specific
genetic mutations. In this context, the CDKL5 deficiency disorder (CDD) is a …

Dendritic spine instability in a mouse model of CDKL5 disorder is rescued by insulin-like growth factor 1

G Della Sala, E Putignano, G Chelini, R Melani… - Biological …, 2016 - Elsevier
Background CDKL5 (cyclin-dependent kinase-like 5) is mutated in many severe
neurodevelopmental disorders, including atypical wRett syndrome. CDKL5 was shown to …

Abnormal mTOR activation in autism

KD Winden, D Ebrahimi-Fakhari… - Annual review of …, 2018 - annualreviews.org
The mechanistic target of rapamycin (mTOR) is an important signaling hub that integrates
environmental information regarding energy availability and stimulates anabolic molecular …

CDKL5 controls postsynaptic localization of GluN2B-containing NMDA receptors in the hippocampus and regulates seizure susceptibility

K Okuda, S Kobayashi, M Fukaya, A Watanabe… - Neurobiology of …, 2017 - Elsevier
Mutations in the Cyclin-dependent kinase-like 5 (CDKL5) gene cause severe
neurodevelopmental disorders accompanied by intractable epilepsies, ie West syndrome or …