CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700 Biomarker disease BEFREE Thus, these studies provide new insights into the biology of CDKL5 and suggest that the molecular pathology in CDKL5 disorder may have distinct neuron-type specific origins and effects. 30288694 2019
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700 Biomarker disease BEFREE Our results suggest that CDKL5 protein therapy may be an effective clinical tool for the treatment of CDKL5 disorder. 29474534 2018
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700 Biomarker disease BEFREE Heterozygous CDKL5 Knockout Female Mice Are a Valuable Animal Model for CDKL5 Disorder. 29977282 2018
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700 Biomarker disease BEFREE These data reveal the first cellular substrates of CDKL5, which may represent important biomarkers in the diagnosis and treatment of CDKL5 disorder, and illuminate the functions of this poorly characterized kinase. 30266825 2018
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700 Biomarker disease BEFREE Pharmacological inhibition of GSK3β activity was able to recover hippocampal defects and cognitive performance in juvenile Cdkl5 KO mice, suggesting that GSK3β inhibitors might be a potential therapeutic option for CDKL5 disorder. 29603837 2018
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700 Biomarker disease CLINGEN Our results suggest that CDKL5 protein therapy may be an effective clinical tool for the treatment of CDKL5 disorder. 29474534 2018
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700 Biomarker disease BEFREE This updated gene model of Cdkl5 in rat provides a framework for studies into its protein products and provides a reference for the development of molecular therapies for testing in rat models of CDKL5 disorder. 27940108 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700 Biomarker disease BEFREE Searching for biomarkers of CDKL5 disorder: early-onset visual impairment in CDKL5 mutant mice. 28369421 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700 GeneticVariation disease BEFREE Data were sourced from the International CDKL5 Disorder Database to which 192 families with a child with a pathogenic CDKL5 mutation had provided data by January 2016. 28103894 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700 GeneticVariation disease UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700 Biomarker disease BEFREE These findings provide novel insights into CDKL5 functions and pave the way for target-specific therapeutic strategies for individuals affected with CDKL5-disorder. 28641386 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700 Biomarker disease BEFREE These data demonstrate that sleep apneas are a core feature of CDKL5 disorder and a respiratory biomarker of CDKL5 deficiency in mice, and suggest that sleep-disordered breathing should be evaluated routinely in CDKL5 patients. 28230307 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700 Biomarker disease CLINGEN While characterizing behavioral phenotypes in the mouse model of cyclin-dependent kinase-like 5 (CDKL5) disorder, a neurodevelopmental disorder caused by mutations in the X-linked gene encoding CDKL5, we found that these mice manifested behavioral phenotypes mimicking multiple key features of ASD, such as impaired social interaction and communication, as well as increased stereotypic digging behaviors. 29016850 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700 GeneticVariation disease BEFREE Data for 108 females and 16 males registered with the International CDKL5 disorder database and with a pathogenic CDKL5 mutation were analyzed. 27528505 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700 GeneticVariation disease BEFREE Mutations of the CDKL5 gene lead to CDKL5 disorder, a neurodevelopmental pathology that shares several features with Rett Syndrome and is characterized by severe intellectual disability. 27466189 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700 GeneticVariation disease UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700 GeneticVariation disease UNIPROT Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. 24564546 2014
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700 GermlineCausalMutation disease ORPHANET The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. 22872100 2013
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700 GeneticVariation disease UNIPROT Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. 23662938 2013
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700 GeneticVariation disease UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700 GeneticVariation disease BEFREE Mutations in the CDKL5 gene have been associated with an X-linked dominant early infantile epileptic encephalopathy-2. 21293276 2011
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700 Biomarker disease CLINGEN Rett syndrome: revised diagnostic criteria and nomenclature. 21154482 2010
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700 GeneticVariation disease UNIPROT Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. 19241098 2009
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700 Biomarker disease CLINGEN Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. 19793311 2009
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700 Biomarker disease GENOMICS_ENGLAND Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. 19241098 2009