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
rs122460157
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
A
0.700
GeneticVariation
CLINVAR
rs1555940536
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
A
0.700
GeneticVariation
CLINVAR
rs1555949009
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
A
0.700
GeneticVariation
CLINVAR
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
rs1555950083
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
A
0.700
GeneticVariation
CLINVAR
rs1555952101
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
A
0.700
CausalMutation
CLINVAR
rs1555954074
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
A
0.700
CausalMutation
CLINVAR
rs1555954078
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
A
0.700
CausalMutation
CLINVAR
rs1555954737
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
A
0.700
CausalMutation
CLINVAR
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
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
rs1569219331
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
A
0.700
GeneticVariation
CLINVAR
rs267606714
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
A
0.700
CausalMutation
CLINVAR
rs267606715
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
A
0.700
CausalMutation
CLINVAR
CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders.
16330482
2005
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
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
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
CDKL5 alterations lead to early epileptic encephalopathy in both genders.
21770923
2011
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
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
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
rs267608415
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
A
0.700
CausalMutation
CLINVAR
rs267608474
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
A
0.700
CausalMutation
CLINVAR