|
Encephalopathies
|
0.100 |
Biomarker
|
group |
BEFREE |
Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a developmental encephalopathy caused by pathogenic variants in the gene CDKL5.
|
30928302 |
2019 |
|
Encephalopathies
|
0.100 |
Biomarker
|
group |
BEFREE |
Clinical evolution and epilepsy outcome in three patients with CDKL5-related developmental encephalopathy.
|
31225800 |
2019 |
|
Encephalopathies
|
0.100 |
Biomarker
|
group |
BEFREE |
Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a severe X-linked neurodevelopmental encephalopathy caused by mutations in the <i>CDKL5</i> gene and characterized by early-onset epilepsy and intellectual and motor impairments.
|
31114483 |
2019 |
|
Encephalopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
New insights in phenomenology and treatment of epilepsy in CDKL5 encephalopathy.
|
30898514 |
2019 |
|
Encephalopathies
|
0.100 |
Biomarker
|
group |
BEFREE |
A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia.
|
29510241 |
2018 |
|
Encephalopathies
|
0.100 |
Biomarker
|
group |
BEFREE |
CDKL5-related encephalopathy is an X-linked dominantly inherited disorder that is characterized by early infantile epileptic encephalopathy or atypical Rett syndrome.
|
25819767 |
2015 |
|
Encephalopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In order to clarify the CDKL5 genotype-phenotype correlations in Chinese patients, CDKL5 mutational screening in cases with early-onset epileptic encephalopathies and RTT without MECP2 mutation were performed.
|
24564546 |
2014 |
|
Encephalopathies
|
0.100 |
Biomarker
|
group |
BEFREE |
CDKL5-related epileptic encephalopathies are a group of refractory seizure disorders starting in early infancy.
|
22832775 |
2013 |
|
Encephalopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
This study demonstrated the importance of CDKL5 mutations as etiological factors in neurodevelopmental disorders, and indicated that a thorough analysis of the CDKL5 gene sequence and its rearrangements should be considered in females with Rett syndrome-like phenotypes, severe encephalopathy and epilepsy with onset before 5 months of age.
|
22867051 |
2012 |
|
Encephalopathies
|
0.100 |
Biomarker
|
group |
BEFREE |
In the last few years, the X-linked serine/threonine kinase cyclin-dependent kinase-like 5 (CDKL5) has been associated with early-onset epileptic encephalopathies characterized by the manifestation of intractable epilepsy within the first weeks of life, severe developmental delay, profound hypotonia, and often the presence of some Rett-syndrome-like features.
|
22779007 |
2012 |
|
Encephalopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations within the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene are important causes of early-onset epileptic encephalopathies.
|
22264704 |
2012 |
|
Encephalopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The progressive parting of CDKL5- and FOXG1-gene-related encephalopathies from the core Rett syndrome is reflected by the effort to produce clearer diagnostic criteria for typical and atypical Rett syndrome.
|
22998673 |
2012 |
|
Encephalopathies
|
0.100 |
Biomarker
|
group |
BEFREE |
With more than 80 reported patients, the phenotype of CDKL5-related encephalopathy is well-defined.
|
22678952 |
2012 |
|
Encephalopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain.
|
21124335 |
2011 |
|
Encephalopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations of the X-linked gene cyclin-dependent kinase-like 5 (CDKL5) cause an X-linked encephalopathy with early onset intractable epilepsy, including infantile spasms and other seizure types, and a Rett syndrome (RTT)-like phenotype.
|
19780792 |
2010 |
|
Encephalopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
60 MECP2/CDKL5 mutation negative European Rett patients (classic and variants), 43 patients with encephalopathy with early onset seizures, and four atypical Rett patients were analysed for mutations in FOXG1.
|
19578037 |
2010 |
|
Encephalopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Atypical RS with severe early-onset encephalopathy and therapy-resistant epilepsy can be due to mutations in the CDKL5 (Cyclin-Dependent Kinase-like 5) gene in Xp22.
|
19428276 |
2010 |
|
Encephalopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We screened the FOXG1 gene in a cohort of 206 MECP2 and CDKL5 mutation negative patients (136 females and 70 males) with severe encephalopathy and microcephaly.
|
19806373 |
2010 |
|
Encephalopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.
|
19793311 |
2009 |
|
Encephalopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We screened the entire coding region of CDKL5 in 151 affected girls with a clinically heterogeneous phenotype ranging from encephalopathy with epilepsy to atypical Rett syndrome by denaturing high liquid performance chromatography and direct sequencing, and we identified three novel missense mutations located in catalytic domain (p.Ala40Val, p.Arg65Gln, p.Leu220Pro).
|
17993579 |
2008 |
|
Encephalopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We screened the entire coding region of CDKL5 for mutations in 183 females with encephalopathy with early seizures by denaturing high liquid performance chromatography and direct sequencing, and we identified in 20 unrelated girls, 18 different mutations including 7 novel mutations.
|
18790821 |
2008 |
|
Encephalopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene are responsible for a severe encephalopathy with early epilepsy.
|
18266744 |
2008 |
|
Encephalopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.
|
18809835 |
2008 |
|
Encephalopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes.
|
17256798 |
2007 |