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 …
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 …
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 …
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
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 …
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 …
associated with pathogenic variants in the X-linked gene encoding cyclin-dependent kinase …
Mapping pathological phenotypes in a mouse model of CDKL5 disorder
Mutations in cyclin-dependent kinase-like 5 (CDKL5) cause early-onset epileptic
encephalopathy, a neurodevelopmental disorder with similarities to Rett Syndrome. Here we …
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 …
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 …
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 …
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 …
neurodevelopmental disorders accompanied by intractable epilepsies, ie West syndrome or …