rs62653623
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
T
0.710
CausalMutation
CLINVAR
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
rs1057518203
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
T
0.700
CausalMutation
CLINVAR
rs1057518759
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Epileptic encephalopathy
GGC
0.700
GeneticVariation
CLINVAR
rs1057518759
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Developmental delay (disorder)
GGC
0.700
GeneticVariation
CLINVAR
rs1057519541
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Epilepsies, Partial
T
0.700
CausalMutation
CLINVAR
rs1057519542
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Epileptic encephalopathy
GGACC
0.700
CausalMutation
CLINVAR
rs1060501859
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
G
0.700
GeneticVariation
CLINVAR
rs1060501860
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
T
0.700
CausalMutation
CLINVAR
rs122460157
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
T
0.700
CausalMutation
CLINVAR
rs122460157
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700
GeneticVariation
UNIPROT
rs122460157
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
A
0.700
GeneticVariation
CLINVAR
rs122460157
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Rett Syndrome, Atypical
T
0.700
CausalMutation
CLINVAR
rs122460158
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
T
0.700
CausalMutation
CLINVAR
rs122460158
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Rett Syndrome, Atypical
T
0.700
CausalMutation
CLINVAR
rs122460159
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700
GeneticVariation
UNIPROT
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
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
rs122460159
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Rett Syndrome, Atypical
T
0.700
CausalMutation
CLINVAR
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
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
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
rs122460159
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
T
0.700
CausalMutation
CLINVAR
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.
17993579
2008
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
C
0.700
GeneticVariation
CLINVAR