Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene are responsible for the onset of CDKL5 Deficiency Disorder (CDD), a neurological pathology characterised by severe infantile seizures, intellectual disability, impairment of gross motor skills, sleep and gastrointestinal disturbances.
|
31794725 |
2020 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
Biomarker
|
disease |
BEFREE |
CDKL5 deficiency disorder (CDD) is characterized by epilepsy, intellectual disability, and autistic features, and CDKL5-deficient mice exhibit a constellation of behavioral phenotypes reminiscent of the human disorder.
|
31201320 |
2019 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene cause CDKL5 Deficiency Disorder (CDD), a rare neurodevelopmental syndrome characterized by severe behavioural and physiological symptoms.No cure is available for CDD.
|
30326240 |
2019 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic mutations in cyclin-dependent kinase-like 5 (<i>CDKL5</i>) result in CDKL5 deficiency disorder (CDD), a rare disease marked by early-life seizures, autistic behaviors, and intellectual disability.
|
30952813 |
2019 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The CDKL5 deficiency disorder (CDD) is a rare condition caused by spontaneous mutations on the cyclin-dependent kinase-like 5 (CDKL5) gene.
|
30561084 |
2019 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The cyclin-dependent kinase like 5 (CDKL5) gene is a known cause of early onset developmental and epileptic encephalopathy, also known as CDKL5 deficiency disorder (CDD).
|
31313283 |
2019 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the CDKL5 (cyclin-dependent kinase-like 5) gene cause CDKL5 Deficiency Disorder (CDD), a severe neurodevelopmental syndrome where patients exhibit early-onset seizures, intellectual disability, stereotypies, limited or absent speech, autism-like symptoms and sensory impairments.
|
31472213 |
2019 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
Biomarker
|
disease |
BEFREE |
Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a developmental encephalopathy caused by pathogenic variants in the gene CDKL5.
|
30928302 |
2019 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
Biomarker
|
disease |
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 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Variants within the CDKL5 gene result in a severe epileptic encephalopathy now known as the CDKL5 Deficiency Disorder.
|
30071384 |
2018 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures.
|
29444904 |
2018 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.
|
28837158 |
2018 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
Biomarker
|
disease |
BEFREE |
These results indicate that CDKL5 plays significant roles in regulating emotional behaviors especially on anxiety- and fear-related responses, and in both acquisition and long-term retention of spatial reference memory, which suggests that focus and special attention should be paid to the specific mechanisms of these deficits in the CDKL5 deficiency disorder.
|
29702698 |
2018 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
|
27848944 |
2017 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy.
|
27734276 |
2017 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy.
|
27187038 |
2016 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencing.
|
25819767 |
2015 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.
|
24564546 |
2014 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.
|
25266480 |
2014 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.
|
22872100 |
2013 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.
|
22922712 |
2012 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.
|
22678952 |
2012 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy.
|
22779007 |
2012 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.
|
22670135 |
2012 |