Identity
HGNC
LOCATION
Xp22.13
LOCUSID
ALIAS
CFAP247,DEE2,EIEE2,ISSX,STK9
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6792
MIM: 300203
HGNC: 11411
Ensembl: ENSG00000008086
Variants:
dbSNP: 6792
ClinVar: 6792
TCGA: ENSG00000008086
COSMIC: CDKL5
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37701975 | 2024 | First report of Tunisian patients with CDKL5-related encephalopathy. | 1 |
| 37771170 | 2024 | CDKL5 deficiency disorder and other infantile-onset genetic epilepsies. | 0 |
| 37804112 | 2024 | Growth patterns in individuals with CDKL5 deficiency disorder. | 0 |
| 38411242 | 2024 | CDKL5 Deficiency Disorder: Some Lessons Learned 20 Years After the First Description. | 0 |
| 37701975 | 2024 | First report of Tunisian patients with CDKL5-related encephalopathy. | 1 |
| 37771170 | 2024 | CDKL5 deficiency disorder and other infantile-onset genetic epilepsies. | 0 |
| 37804112 | 2024 | Growth patterns in individuals with CDKL5 deficiency disorder. | 0 |
| 38411242 | 2024 | CDKL5 Deficiency Disorder: Some Lessons Learned 20 Years After the First Description. | 0 |
| 36372969 | 2023 | Analysis of electrocardiograms in individuals with CDKL5 deficiency disorder. | 1 |
| 36634535 | 2023 | Psychometric properties of QI-Disability in CDKL5 Deficiency Disorder: Establishing readiness for clinical trials. | 1 |
| 37201242 | 2023 | CDKL5 Deficiency Disorder Without Epilepsy. | 1 |
| 37429835 | 2023 | CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome. | 0 |
| 37688574 | 2023 | CDKL5-mediated developmental tuning of neuronal excitability and concomitant regulation of transcriptome. | 0 |
| 37751639 | 2023 | The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder. | 0 |
| 38081835 | 2023 | Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability. | 1 |
Citation
Dessen P
CDKL5 (cyclin dependent kinase like 5)
Atlas Genet Cytogenet Oncol Haematol. 2006-10-01
Online version: http://atlasgeneticsoncology.org/gene/43206/cdkl5
