Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.
|
19161156 |
2009 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
CDKL5 alterations lead to early epileptic encephalopathy in both genders.
|
21770923 |
2011 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.
|
15917271 |
2005 |
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 |
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.
|
16611748 |
2006 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.
|
22670135 |
2012 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders.
|
16330482 |
2005 |
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 |
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 |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
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 |
CausalMutation
|
disease |
CLINVAR |
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.
|
17993579 |
2008 |
Cyclin-dependent kinase-like 5 deficiency
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice.
|
23236174 |
2012 |
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 |
Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.
|
19793311 |
2009 |
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 |
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 |
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 |
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 |
Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.
|
25266480 |
2014 |
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 |