CDKL5 and Related Research

This page contains my reviews of research articles into CDKL5 and related topics. I have also reviewed some of the scientific meetings I have attended. You can click on links for the original article (where available) or my review. Feel free to download anything that you want. I have also started adding reviews of the CDKL5 Forums that have been written by Ana Mingorance.

CDKL5 Forums

London 2015      London 2016      London 2018      Boston 2019      Virtual 2020      Virtual 2021      Boston 2022    London 2023

Reports on other CDKL5 Scientific Meetings

Maastricht 2013      Bologna 2014      Birmingham 2016       Rome 2017

Annual CDKL5 Research Reviews

Previous Studies

Clinical Research

Thyroid function in Rett Syndrome  
Hormonal Research in Paediatrics  2015.

Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.
European Journal of Human Genetics 2014. 
Link to abstract.      REVIEW 

Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.
BMC Medical Genetics 2014.     
Link to text.                

Gastrointestinal problems in children with a CDKL5 Disorder: a parent-led survey.          
CDKL5 UK  Poster Presentation at the 3rd European Rett Syndrome Conference, Maastricht October 2013. 

CDKL5 and ARX mutations in males with early-onset epilepsy.        
Pediatric Neurology 2013.    
Link to abstract.     

Novel Mutations in Cyclin-Dependent Kinase-Like 5 (CDKL5) Gene in Indian Cases of Rett Syndrome. 
Neuromolecular Medicine 2013.     
Link to abstract.      REVIEW

Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene. 
Developmental Medicine & Child Neurology 2012.     
Link to text.          

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. 
European Journal of Human Genetics  2012.
Link to text.              

Recurrent mutations in the CDKL5 gene: Genotype-phenotype relationship.
American Journal of Medical Genetics  2012. 
Link to abstract.    

Variant of Rett Syndrome and CDKL5 gene: Clinical and autonomic description of 10 cases.  
Neuropediatrics 2012.     
Link to abstract.      

CDKL5 in different atypical Rett syndrome variants:  Description of the first eight cases from Spain. 
Journal of Pediatric Epilepsy 2012.     
Link to text.               

Historic, clinical and prognostic features of epileptic encephalopathies caused by CDKL5 mutations.    
Paediatric Neurology 2012.     
Link to abstract.       REVIEW

Animal Model Research

Dendritic Spine Instability in a Mouse Model of CDKL5 Disorder Is Rescued by Insulin-like Growth Factor 1     
Biological Psychiatry   2015.
Link to abstract         REVIEW

Inhibition of GSK-3β rescues hippocampal development and learning in a mouse model of CDKL5 disorder.        
Neurobiology of Diseases  2015.
Link to abstract        REVIEW

Synaptic synthesis, dephosphorylation and degradation: a novel paradigm for an activity dependent neuronal control of CDKL5.
Journal of Biological Chemistry 2015.     
Link to text                 REVIEW  

Sequential elution interactome analysis of the Mind bomb 1 ubiquitin ligase reveals a novel role in dendritic spine outgrowth.             
Molecular & Cellular Proteomics  2015.
Link to abstract         REVIEW

Loss of CDKL5 impairs survival and dendritic growth of newborn neurons by altering AKT/GSK-3β signaling.  
Neurobiology of Diseases 2014.
Link to text.             REVIEW

Mapping pathological phenotypes in a mouse model of CDKL5 Disorder.
PLOS 2014.    
Link to text.                REVIEW

Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-type phenotypes in mice.  
PNAS 2012.     
Link to text.              REVIEW

Basic Research

Alteration of serum lipid profile, SRB1 loss and impaired Nrf2 activation in CDKL5 Disorder.
Free Radical Biology and Medicine  2015.
Link to abstract        REVIEW

GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.
European Journal of Human Genetics 2014.
Link to abstract.        REVIEW     

Identification of amphiphysin 1 as an endogenous substrate for CDKL5, a protein kinase associated with X-linked neurodevelopmental disorder.
Archives of Biochemistry and Biophysics 2013.    
Link to abstract.       

Mutations in the C-terminus of CDKL5: proceed with caution.   
European Journal of Human Genetics 2013. 
Link to text.                REVIEW

Palmitoylation-dependent CDKL5-PSD-95 interaction regulates synaptic targeting of CDKL5 and dendritic spine development.       
PNAS 2013.    
Link to text.                REVIEW

CDKL5 Regulates Flagellar Length and Localises to the Base of the Flagella in Chlamydomonas.
Molecular Biology of the Cell 2013.     
Link to text.                REVIEW

Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: 
Identification of novel mutations. Gene  2012. 
Link to abstract        REVIEW

CDKL5, a novel MYCN-repressed gene, blocks cell cycle and promotes differentiation of neuronal cells.  
Biochimica et Biophysica Acta 2012.     
Link to text.            REVIEW

A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain. 
Human Genetics 2012.    
Link to abstract.       REVIEW

Miscellaneous Articles

Catastrophic Childhood Epilepsy: A Recent Convergence of Basic and Clinical Science.   2014. 
Link to text                    REVIEW

Sleep, Plasticity and the Pathophysiology of Neurodevelopmental Disorders: The Potential Roles of Protein Synthesis and Other Cellular Processes.
Brain Sciences 2014.     
Link to text                    

Neonatal Exposure to Antiepileptic Drugs Disrupts Striatal Synaptic Development
Annals of Neurology 2012.     
Link to text.              REVIEW   

Treatment of Neurodevelopmental Disorders in Adulthood.
The Journal of Neuroscience 2012. 
Link to text                    REVIEW 

Proximal large bowel volvulus in children: 6 new cases and review of the literature. 
Journal of Pediatric Surgery  2012.     
Link to abstract        REVIEW 

Partial rescue of Rett syndrome by ω -3 polyunsaturated fatty acids (PUFAs) oil.    
Genes and Nutrition  2012.     
Link to text.                  REVIEW   

A survey of parents of children with cortical or cerebral visual impairment.     
Journal of Visual Impairment and Blindness 2010.     
Link to text                   REVIEW

Gastrointestinal Disorders in Children with Neurodevelopmental Disabilities. 
Developmental Disabilities Research Reviews 2008.     
Link to abstract           REVIEW

Melatonin therapy for circadian rhythm sleep disorders in children with multiple disabilities: what have we learned in the last decade?        
Developmental Medicine & Child Neurology 2004.    
Link to text                  


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