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.


Scientific Meetings

Maastricht - 2013      Bologna - 2014      Birmingham - 2016


CDKL5 Research Times  (published by the International Foundation for CDKL5 Research)

August 2011     August 2012    December 2014

   

Research Articles


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

38. 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

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

36.  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

35. Thyroid function in Rett Syndrome                                                                
Hormonal Research in Paediatrics  2015.

Link to abstract         REVIEW

34. 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  

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

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

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

30. 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

29. 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     

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

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

26. 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. 
LINK TO POSTER  

25. 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.      
REVIEW      

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

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

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

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

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

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

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

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

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

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

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

13. 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.         
REVIEW

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

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

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

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

8. 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

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

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

5. Adult Phenotypes in Angelman- and Rett- Like Syndromes. 
Molecular Syndromology.  Published online: January 13 2012.    
Link to text.               
REVIEW 

4. Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotype.                                                                                
Paediatric Neurology 2012.     
Link to abstract.      
REVIEW  

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

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

1. 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              
REVIEW