|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.110 |
CausalMutation
|
phenotype |
CLINVAR |
Functional abilities in children and adults with the CDKL5 disorder.
|
27528505 |
2016 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.110 |
CausalMutation
|
phenotype |
CLINVAR |
Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.
|
26708753 |
2016 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.110 |
GeneticVariation
|
phenotype |
CLINVAR |
Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.
|
26708753 |
2016 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.110 |
GeneticVariation
|
phenotype |
CLINVAR |
Functional abilities in children and adults with the CDKL5 disorder.
|
27528505 |
2016 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.110 |
CausalMutation
|
phenotype |
CLINVAR |
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.
|
24916645 |
2015 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.110 |
GeneticVariation
|
phenotype |
CLINVAR |
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.
|
24916645 |
2015 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.110 |
CausalMutation
|
phenotype |
CLINVAR |
Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.
|
25266480 |
2014 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.110 |
GeneticVariation
|
phenotype |
CLINVAR |
Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.
|
24564546 |
2014 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.110 |
CausalMutation
|
phenotype |
CLINVAR |
Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.
|
24564546 |
2014 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.110 |
GeneticVariation
|
phenotype |
CLINVAR |
Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.
|
25266480 |
2014 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.110 |
GeneticVariation
|
phenotype |
CLINVAR |
Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene.
|
23151060 |
2013 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.110 |
CausalMutation
|
phenotype |
CLINVAR |
CDKL5 and ARX mutations in males with early-onset epilepsy.
|
23583054 |
2013 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.110 |
GeneticVariation
|
phenotype |
CLINVAR |
CDKL5 and ARX mutations in males with early-onset epilepsy.
|
23583054 |
2013 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.110 |
GeneticVariation
|
phenotype |
CLINVAR |
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.
|
22872100 |
2013 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.110 |
CausalMutation
|
phenotype |
CLINVAR |
Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene.
|
23151060 |
2013 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.110 |
CausalMutation
|
phenotype |
CLINVAR |
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.
|
22872100 |
2013 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.110 |
CausalMutation
|
phenotype |
CLINVAR |
CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.
|
22670135 |
2012 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.110 |
CausalMutation
|
phenotype |
CLINVAR |
What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy.
|
22779007 |
2012 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.110 |
GeneticVariation
|
phenotype |
CLINVAR |
What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy.
|
22779007 |
2012 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.110 |
CausalMutation
|
phenotype |
CLINVAR |
Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.
|
22678952 |
2012 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.110 |
GeneticVariation
|
phenotype |
CLINVAR |
Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.
|
22678952 |
2012 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.110 |
GeneticVariation
|
phenotype |
CLINVAR |
CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.
|
22670135 |
2012 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.110 |
GeneticVariation
|
phenotype |
CLINVAR |
Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity.
|
21775177 |
2011 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.110 |
CausalMutation
|
phenotype |
CLINVAR |
Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity.
|
21775177 |
2011 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.110 |
GeneticVariation
|
phenotype |
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 |