rs1555955296
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
2-3 toe syndactyly
T
0.700
CausalMutation
CLINVAR
rs1555955296
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Appendicular hypotonia
T
0.700
CausalMutation
CLINVAR
rs62643608
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Autistic Disorder
C
0.700
CausalMutation
CLINVAR
rs587783405
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Bruxism
T
0.700
CausalMutation
CLINVAR
rs1555955296
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Central hypotonia
T
0.700
CausalMutation
CLINVAR
rs62653623
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Craniodiaphyseal dysplasia
0.010
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
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)
0.010
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
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
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
Cyclin-dependent kinase-like 5 deficiency
A
0.700
GeneticVariation
CLINVAR
rs122460158
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Cyclin-dependent kinase-like 5 deficiency
T
0.700
CausalMutation
CLINVAR
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
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
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