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 |