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

August 2011     August 2012

Research Articles

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

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

18. 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
.                    Review          Link to abstract

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

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

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

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

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

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

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

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

9. CDKL5, a novel MYCN-repressed gene, blocks cell cycle and promotes differentiation of neuronal cells.              
Biochimica et Biophysicaca Acta 2012.  
                 Review          Link to abstract

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

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

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

5. 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.  
                 Review          Link to abstract

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

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

2. Adult Phenotypes in Angelman- and Rett- Like Syndromes.    
Molecular Syndromology.  Published online: January 13 2012.                    
Review          Link to abstract.

1. Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotype.  
Paediatric Neurology 2012.                  
 Review          Link to text.


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