rs62653623
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
0.710
GeneticVariation
BEFREE
Finally, we showed that acute treatment with the GluA2-lacking AMPAR blocker IEM-1460 decreased AMPAR currents, and rescued social deficits, working memory impairments, and seizure behavior latency in R59X mice.<b>SIGNIFICANCE STATEMENT</b> CDKL5 deficiency disorder (CDD) is a rare disease marked by autistic-like behaviors, intellectual disability, and seizures.
30952813
2019
rs62653623
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
T
0.710
CausalMutation
CLINVAR
rs1555955290
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
C
0.700
CausalMutation
CLINVAR
Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures.
29444904
2018
rs267606715
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
A
0.700
CausalMutation
CLINVAR
High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.
28837158
2018
rs122460159
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
T
0.700
CausalMutation
CLINVAR
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
27848944
2017
rs1555949011
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
A
0.700
CausalMutation
CLINVAR
Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy.
27734276
2017
rs1569215629
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
A
0.700
CausalMutation
CLINVAR
Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy.
27187038
2016
rs122460159
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
T
0.700
CausalMutation
CLINVAR
Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencing.
25819767
2015
rs267606715
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
A
0.700
CausalMutation
CLINVAR
Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.
24564546
2014
rs267606715
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
A
0.700
CausalMutation
CLINVAR
Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.
25266480
2014
rs1569213054
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
T
0.700
CausalMutation
CLINVAR
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.
22872100
2013
rs1569215629
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
A
0.700
CausalMutation
CLINVAR
De novo mutations in epileptic encephalopathies.
23934111
2013
rs863225290
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
G
0.700
CausalMutation
CLINVAR
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.
22872100
2013
rs122460159
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
T
0.700
CausalMutation
CLINVAR
Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.
22678952
2012
rs267606715
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
A
0.700
CausalMutation
CLINVAR
Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice.
23236174
2012
rs267606715
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
A
0.700
CausalMutation
CLINVAR
What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy.
22779007
2012
rs267606715
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
A
0.700
CausalMutation
CLINVAR
Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.
22678952
2012
rs267608511
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
C
0.700
CausalMutation
CLINVAR
CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.
22670135
2012
rs267608511
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
C
0.700
CausalMutation
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
rs1569215594
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
G
0.700
CausalMutation
CLINVAR
Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life.
21482751
2011
rs267606715
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
A
0.700
CausalMutation
CLINVAR
CDKL5 alterations lead to early epileptic encephalopathy in both genders.
21770923
2011
rs122460159
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
T
0.700
CausalMutation
CLINVAR
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.
19780792
2010
rs267606715
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
A
0.700
CausalMutation
CLINVAR
Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males.
20602487
2010
rs122460159
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
T
0.700
CausalMutation
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
rs267608395
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
T
0.700
CausalMutation
CLINVAR
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.
19161156
2009