Property Summary

NCBI Gene PubMed Count 71
PubMed Score 123.29
PubTator Score 156.49

Knowledge Summary

Patent (4,650)


  Disease (7)


  Differential Expression (17)

Disease log2 FC p
astrocytic glioma -3.200 4.3e-03
ependymoma -3.000 1.3e-03
oligodendroglioma -2.800 7.9e-19
glioblastoma -3.300 6.7e-06
osteosarcoma -1.343 3.7e-05
medulloblastoma -2.900 7.7e-07
atypical teratoid / rhabdoid tumor -3.700 1.2e-06
medulloblastoma, large-cell -3.100 4.5e-04
primitive neuroectodermal tumor -2.600 1.2e-03
adrenocortical carcinoma 1.133 2.6e-02
active Crohn's disease 1.324 2.0e-03
interstitial cystitis -1.400 2.0e-03
adult high grade glioma -3.100 1.4e-05
pilocytic astrocytoma -2.700 6.0e-08
lung adenocarcinoma -1.100 1.1e-06
ovarian cancer 1.300 1.5e-02
pituitary cancer 1.200 9.3e-04

Gene RIF (63)

26701947 Mutations in exon 8 of cyclin-dependent kinase-like 5 gene were determined to be disease-causing in epileptic encephalopathy.
25864828 It was indicated that CDKL5 controls excitatory synaptic transmission and the conditions associated with CDKL5 deviation in man indicates synaptic abnormalities.
25762588 study presents the genotype of 2 sisters, a CDKL5 mutation c. 283-3_290del, but different phenotype
25315662 Data suggest that the increased dosage of cyclin dependent kinase like 5 protein(CDKL5) might have affected interactions of this kinase with its substrates, leading to perturbation of neurodevelopmental and neurobehavioral abnormalities.
25266480 CDKL5 gene mutations accounted for 5.4% of boys with early onset epileptic encephalopathy
24738188 Its mutation causes Rett syndrome.(review)
24564546 Mutations in the CDKL5 gene associtaed with Hanefield variants of Rett syndrome and early-onset epileptic encephalopathies.
23828526 study described the clinical condition and characterization of two first Brazilian patients with CDKL5 mutations, including the first Brazilian case of atypical Rett related to abnormalities in this gene
23756444 CDKL5 gene is not useful in practical molecular diagnosis of atypical Rett syndrome.
23583054 aberrations of CDKL5 and ARX combined are an important consideration in the genetic forms of early-onset epilepsy in boys
23242510 3 known & 3 new (V966Im A1911V, H589H)mutations in the C-terminal domain of CDKL5 were found in Indian patients with Rett syndrome negative for MECP2.
23151060 study examines the presence of breathing and sleep abnormalities in a small series of patients with CDKL5 mutations
23064044 Identification of eleven novel sequence variations including four pathogenic mutations in the CDKL5 gene.
22922712 CDKL5 is localized at excitatory synapses and contributes to correct dendritic spine structure and synapse activity.
22921766 a functional axis between MYCN and CDKL5 governing both neuron proliferation rate and differentiation.
22867051 The importance of CDKL5 mutations as etiological factors in neurodevelopmental disorders was shown. The CDKL5 gene sequence and its rearrangements should be thoroughly analyzed in females with Rett syndrome, severe encephalopathy and epilepsy.
22832775 CDKL5 mutations cause severe epilepsy in infancy with subsequent epileptic encephalopathy.
22779007 This review surveys the current state of CDKL5 research with emphasis on the clinical symptoms associated with mutations in CDKL5, the different mechanisms regulating its functions, and the connected molecular pathways.
22678952 Recurrent mutations in the CDKL5 gene in patients with epileptic encephalopathies can be associated with either a milder or a more severe phenotype.
22430159 The patients with clinical features of Rett syndrome, with epileptic encephalopathy before 6 months of age, regardless the presence of genetic abnormalities (mutations in MeCP2 or CDKL5 or both) or even in their absence.
22264704 sought to determine the historic, clinical, and prognostic features of epilepsy secondary to CDKL5 mutations. all children developed infantile spasms. All children demonstrated developmental delay and visual impairment.
21775177 A novel CDKL5 mutation is identified in an ambulatory girl who had severe mental retardation and multiple types of seizures without Rett-like features.
21770923 mutations in early onset epileptic encephalopathy
21765152 This study present clinical phenotype of 5 girls having a mutation in the CDKL5 gene
21750574 female CDKL5-mutated iPSCs maintain X-chromosome inactivation and clones express either the mutant CDKL5 allele or the wild-type allele that serve as an ideal experimental control.
21502606 the distinctive hypermotor-tonic-spasms sequence is a feature of CDKL5 epileptic encephalopathy.
21318334 A novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features.
21309761 Infants with CDKL5-related early epileptic encephalopathy can present in the first year of life with an unusual.
21293276 We report the first case of an exonic deletion of CDKL5 in a male and emphasize the importance of underappreciated mosaic exonic copy number variation in patients with early-onset seizures and RTT-like features of both genders.
21124335 CDKL5 exon 16b should now be considered in the genetic screening of patients presenting with a CDKL5-related disease profile.
21107515 CDKL5 deficit may induce changes in synaptic plasticity in the patient's brain.
20728410 Observational study of gene-disease association. (HuGE Navigator)
20602487 CDKL5 mutation is associated with epileptic encephalopathy.
20513142 Data indicate that MEF2C missense de novo mutations in severe mental retardation showed diminished MECP2 and CDKL5 expression.
20493745 Two patients (one female, one male) with CDKL5 mutations have epileptic spasms after tonic seizures but never present infantile spasms as the main seizure type or hypsarrhythmia in electroencephalography.
20397747 seven polymorphic variations and four de novo mutations of the CDKL5 gene were identified, and in all instances of the latter the clinical phenotype was that of an epileptic encephalopathy.
19793311 The CDKL5 mutation rate is high (28%) in women with early-onset seizures and infantile spasms.
19780792 We found CDKL5 mutations in 8.2% (4 of 49) of patients and genomic deletions in 8.2% (4 of 49). Overall, abnormalities of the CDKL5 gene accounted for 16.3% (8 of 49) of patients.
19780792 Observational study of gene-disease association. (HuGE Navigator)
19740913 CDKL5 is involved in pre-mRNA processing, by controlling splicing factor dynamics.
19734009 CDKL5 mutations are not responsible for early onset severe myoclonic epilepsy in infancy
19564592 We report CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.
19552836 Observational study of gene-disease association. (HuGE Navigator)
19471977 Data demonstrate the first instance of genomic deletion as the molecular basis of CDKL5 deficiency in females.
19428276 a novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late onset seizure disorder.
19241098 Results describe the correlation of genotype and phenotype in CDKL5 mutated female carriers.
18809835 CDKL5 gene mutations may represent a cause of severe or profound mental retardation and early-onset intractable seizures, also in boys.
18790821 18 different mutations (7 novel ones) were identified in 20 unrelated girls. These mutations were identified in eight patients with encephalopathy with RTT-like features, five with infantile spasms and seven with encephalopathy with refractory epilepsy.
18701457 CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail
18266744 Epileptic phenotype in CDKL5 mutations, and a potential relationship between the phenotype and the genotype.
18063413 clinical features & electroencephalographic findings of 2 patients affected by a previously unreported CDKL5 mutation; both manifest Hanefeld variant Rett syndrome & had early-onset seizures, hand stereotypies, congenital psychomotor delay & hypotonia
17993579 screened entire coding region of CDKL5 in 151 affected girls with a heterogeneous phenotype ranging from encephalopathy with epilepsy to atypical Rett syndrome, and identified 3 novel missense mutations in catalytic domain Ala40Val, Arg65Gln, Leu220Pro
17089071 Observational study of genotype prevalence. (HuGE Navigator)
17089071 CDKL5 mutations may a rare cause of Rett syndrome.
17049193 The observation of this study and review of the literature suggest that a broader polymorphic electroclinical pattern with both generalized and focal seizures may occur in patients with CDKL5 mutations.
16935860 CDKL5 phosphorylation is required for its entrance into the nucleus whereas a portion of the COOH-terminal domain is responsible for a stable residency in this cellular compartment probably through protein-protein interactions
16611748 Observational study of genotype prevalence. (HuGE Navigator)
16611748 CDKL5 mutations are a significant cause of infantile spasms and early epileptic seizures in female patients, and of a later intractable seizure disorder, irrespective of whether they have suspected Rett syndrome.
16326141 Patients with the CDKL5 mutation have an early onset, epileptic encephalopathy in infancy that evolves into myoclonic seizures in childhood with a unique EEG pattern.
16015284 novel pathogenic CDKL5 mutations were identified in three girls, two of whom had initially been diagnosed with the early onset seizure variant of Rett Syndrome (RTT) and the other with early onset seizures and some features of RTT
15917271 demonstrate that MeCP2 and CDKL5 interact both in vivo and in vitro and that CDKL5 is indeed a kinase, which is able to phosphorylate itself and to mediate MeCP2 phosphorylation
15635068 A proportion of Rett syndrome atypical cases may result from mutations in CDKL5. (review)
15492925 CDKL5 mutations are associated with epilepsy, X-linked mental retardation and a clinical phenotype that overlaps Rett syndrome.

AA Sequence


Text Mined References (80)

PMID Year Title
27315173 2016 Characterisation of CDKL5 Transcript Isoforms in Human and Mouse.
26701947 Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene.
25864828 2015 [Towards elucidating the regulatory roles of CDKL5 in synaptic transmission].
25762588 2015 Two Siblings With a CDKL5 Mutation: Genotype and Phenotype Evaluation.
25315662 2015 Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.
25266480 2014 Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.
24738188 2014 [Clinical features in Rett syndrome: MECP2-, CDKL5- and FOXG1- related disorders].
24564546 2014 Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.
23828526 2013 Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients.
23756444 2014 Mutations in the C-terminus of CDKL5: proceed with caution.
23583054 2013 CDKL5 and ARX mutations in males with early-onset epilepsy.
23242510 2013 Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23151060 2013 Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene.
23064044 2013 Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations.
22922712 2012 CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.
22921766 CDKL5, a novel MYCN-repressed gene, blocks cell cycle and promotes differentiation of neuronal cells.
22867051 2012 CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.
22832775 2013 CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patients.
22779007 2012 What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy.
22678952 2012 Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.
22430159 2012 Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases.
22264704 2012 Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations.
21775177 2011 Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity.
21770923 2011 CDKL5 alterations lead to early epileptic encephalopathy in both genders.
21765152 2012 Clinical phenotype of 5 females with a CDKL5 mutation.
21750574 2011 iPS cells to model CDKL5-related disorders.
21748340 2012 A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.
21502606 2011 A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence.
21318334 2011 Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features.
21309761 2011 CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life.
21293276 2011 Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.
21124335 2011 An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain.
21107515 2011 Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy.
20728410 2010 Epilepsy in Rett syndrome: clinical and genetic features.
20602487 2010 Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males.
20513142 2010 Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
20493745 2011 Epilepsy caused by CDKL5 mutations.
20397747 2010 Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19793311 2009 Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.
19780792 2010 Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.
19740913 2009 CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery.
19734009 2009 CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy.
19564592 2009 Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.
19552836 2009 [Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients].
19471977 2009 Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder.
19428276 2010 A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder.
19369195 2009 Large-scale proteomics analysis of the human kinome.
19253388 2009 A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.
19241098 2009 Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.
18809835 2008 CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.
18790821 2008 Key clinical features to identify girls with CDKL5 mutations.
18701457 2008 CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18266744 2008 The three stages of epilepsy in patients with CDKL5 mutations.
18063413 2008 Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17993579 2008 Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.
17474147 2007 Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.
17344846 2007 Patterns of somatic mutation in human cancer genomes.
17089071 2007 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.
17049193 2007 Seizures and electroencephalographic findings in CDKL5 mutations: case report and review.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16935860 2006 Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation.
16611748 2006 CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.
16326141 2006 Myoclonic encephalopathy in the CDKL5 gene mutation.
16015284 2005 Early onset seizures and Rett-like features associated with mutations in CDKL5.
15917271 2005 CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.
15772651 2005 The DNA sequence of the human X chromosome.
15689447 2005 CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms.
15635068 2005 Rett syndrome: clinical review and genetic update.
15499549 2004 Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation.
15492925 2004 Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12736870 2003 Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
9721213 1998 Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region.
8864140 1996 Differential screening identifies genetic markers of monocyte to macrophage maturation.