Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.200 GeneticVariation disease BEFREE Mutations in CDKL5 have been associated with neurodevelopmental disorders characterized by early-onset epileptic encephalopathy and severe intellectual disability, suggesting that CDKL5 plays important roles in brain development and function. 30246934 2019
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.200 GeneticVariation disease BEFREE The cyclin-dependent kinase like 5 (CDKL5) gene is a known cause of early onset developmental and epileptic encephalopathy, also known as CDKL5 deficiency disorder (CDD). 31313283 2019
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.200 GeneticVariation disease BEFREE Pathogenic CDKL5 variants cause an X-linked dominant infantile epileptic encephalopathy, predominantly in females. 30624022 2019
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.200 GeneticVariation disease BEFREE Mutations in the X-linked gene CDKL5 cause early-onset epileptic encephalopathy and severe developmental delay. 29510241 2018
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.200 GeneticVariation disease BEFREE Variants within the CDKL5 gene result in a severe epileptic encephalopathy now known as the CDKL5 Deficiency Disorder. 30071384 2018
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.200 GeneticVariation disease BEFREE Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy. 28872899 2017
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.200 GeneticVariation disease BEFREE Pathogenic variants involving the CDKL5 gene result in a severe epileptic encephalopathy, often later presenting with features similar to Rett syndrome. 28605011 2017
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.200 GeneticVariation disease BEFREE Our results support the importance of genetic testing of the CDKL5 gene in patients with early-onset epileptic encephalopathy and Rett-like features with early-onset seizures. 27187038 2016
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.200 GeneticVariation disease BEFREE Mutations in the CDKL5 gene cause an early-onset epileptic encephalopathy. 26387070 2016
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.200 Biomarker disease BEFREE CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature. 27599155 2016
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.200 GeneticVariation disease BEFREE CDKL5 variant in a boy with infantile epileptic encephalopathy: case report. 25085838 2015
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.200 GeneticVariation disease BEFREE Mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene have been described in girls with Rett-like features and early-onset epileptic encephalopathy including infantile spasms. 23756444 2014
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.200 GeneticVariation disease BEFREE CDKL5 gene mutations accounted for 5.4% of boys with early onset EE. 25266480 2014
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.200 GeneticVariation disease BEFREE Mutations in CDKL5 gene are responsible for 7 with Hanefeld variants of RTT and 2 with early-onset epileptic encephalopathy in 71 girls as well as for 1 infantile spasms in 31 males. 24564546 2014
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.200 GeneticVariation disease BEFREE Mutations of the CDKL5 gene cause early epileptic encephalopathy. 24715584 2014
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.200 GeneticVariation disease BEFREE CDKL5 mutations cause severe epilepsy in infancy with subsequent epileptic encephalopathy. 22832775 2013
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.200 GeneticVariation disease BEFREE Mutations in the CDKL5 (cyclin-dependent kinase-like 5) gene are associated with a severe epileptic encephalopathy (early infantile epileptic encephalopathy type 2, EIEE2) characterized by early-onset intractable seizures, infantile spasms, severe developmental delay, intellectual disability, and Rett syndrome (RTT)-like features. 22921766 2013
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.200 GeneticVariation disease BEFREE Our report suggests that the clinical features associated with CDKL5 deletions could be implicated in Japanese patients, and that genetic testing of CDKL5, including both sequencing and deletion analyses, should be considered in girls with early-onset epileptic encephalopathy and RTT-like features. 21802232 2012
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.200 Biomarker disease BEFREE 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
0.200 GeneticVariation disease BEFREE Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy. 21107515 2011
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.200 GeneticVariation disease BEFREE Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) have been identified in female patients with early onset epileptic encephalopathy and severe mental retardation with a Rett-like phenotype. 20493745 2011
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.200 Biomarker disease BEFREE Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life. 21482751 2011
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.200 GeneticVariation disease BEFREE These findings indicate that alterations in CDKL5 are associated with early epileptic encephalopathy in both female and male patients. 21770923 2011
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.200 Biomarker disease BEFREE CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. 21309761 2011
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.200 GeneticVariation disease BEFREE Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene. 19455595 2010