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 …
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 …
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 …
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 …
Mutations in cyclin-dependent kinase-like 5 (CDKL5) cause early-onset epileptic encephalopathy, a neurodevelopmental disorder with similarities to Rett Syndrome. Here we …
Early-onset epileptic encephalopathies are severe disorders often associated with specific genetic mutations. In this context, the CDKL5 deficiency disorder (CDD) is a …
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 …
The mechanistic target of rapamycin (mTOR) is an important signaling hub that integrates environmental information regarding energy availability and stimulates anabolic molecular …
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 …