Rett and Rett-related disorders: Common mechanisms for shared symptoms?

SR D'Mello - Experimental Biology and Medicine, 2023 - journals.sagepub.com
Rett syndrome is a neurodevelopmental disorder caused by loss-of-function mutations in the
methyl-CpG binding protein-2 (MeCP2) gene that is characterized by epilepsy, intellectual …

[HTML][HTML] Cannabinoids and Genetic Epilepsy Models: A Review with Focus on CDKL5 Deficiency Disorder

S Massey, A Quigley, S Rochfort… - International Journal of …, 2024 - mdpi.com
Pediatric genetic epilepsies, such as CDKL5 Deficiency Disorder (CDD), are severely
debilitating, with early-onset seizures occurring more than ten times daily in extreme cases …

Autistic‐relevant behavioral phenotypes of a mouse model of cyclin‐dependent kinase‐like 5 deficiency disorder

N Mottolese, O Coiffard, C Ferraguto… - Autism …, 2024 - Wiley Online Library
Abstract Cyclin‐dependent kinase‐like 5 (CDKL5) deficiency disorder (CDD) is a
neurodevelopmental disease caused by mutations in the X‐linked CDKL5 gene and …

Reduced Neurite Arborization in Primary Dopaminergic Neurons in Autism-Like Shank3B-Deficient Mice

Z Bacova, T Havranek, D Mihalj, V Borbelyova… - Molecular …, 2024 - Springer
Despite many studies on dopamine changes in autism, specific alterations in midbrain
dopamine neurons projecting to the striatum and cortex remain unclear. Mouse models with …

Role of neuroinflammation in the pathophysiology of CDKL5 deficiency disorder

N Mottolese - 2024 - amsdottorato.unibo.it
Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD), a rare
neurodevelopmental disease caused by mutations in the X-linked CDKL5 gene, is …