Skip to search formSkip to main contentSkip to account menu

CDKL5 gene

Known as: EIEE2, cyclin dependent kinase like 5, SERINE/THREONINE PROTEIN KINASE 9 
This gene plays a role in protein metabolism.
National Institutes of Health

Related topics

Related topics

5 relations
CDKL5 protein, humanCDKL5 wt AllelePhosphorylationSerine/Threonine Phosphorylation

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Pregnenolone and pregnenolone-methyl-ether rescue neuronal defects caused by dysfunctional CLIP170 in a neuronal model of CDKL5 Deficiency Disorder
2017
2017
Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy.
BACKGROUND Variants in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been reported as being etiologically… 
2016
2016
Expression analyses of splice variants of zebrafish cyclin-dependent kinase-like 5 and its substrate, amphiphysin 1.
2016
2016
A novel CDKL5 mutation in a Japanese patient with atypical Rett syndrome.
2013
2013
Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion.
Highly Cited
2011
Highly Cited
2011
De novo SCN1A mutations in migrating partial seizures of infancy
Objective: To determine the genetic etiology of the severe early infantile onset syndrome of malignant migrating partial seizures… 
2011
2011
Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features
Mutations in CDKL5, which encodes cyclin dependent kinase-like 5, cause a form of severe infantile epileptic encephalopathy… 
Highly Cited
2007
Highly Cited
2007
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy
Mutations in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been shown to cause infantile spasms as well as… 
2006
2006
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome
AbstractRett syndrome (RTT) is a progressive neurodevelopmental disorder that is caused by mutations in the X-linked methyl-CpG… 
2005
2005
Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2
Mutations in the MECP2 gene are found in only 80% of patients with Rett syndrome (RTT). Therefore other genes have to be involved… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)