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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Cyclin-dependent kinase-like 5

CDKL5, cyclin-dependent kinase-like 5, STK9
This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: MECP2, PCNA, HAD, AGE, Qin
Papers on CDKL5
Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy.
New
Kluger et al., Germany. In Eur J Paediatr Neurol, Jan 2016
OBJECTIVE: Mutations in the CDKL5 gene cause an early-onset epileptic encephalopathy.
Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene.
New
Maciel et al., Lisbon, Portugal. In Int J Dev Neurosci, Nov 2015
with breakpoints in the cytobands where the MECP2 and CDKL5 genes are located.
High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.
New
Matsumoto et al., Niigata, Japan. In Brain Dev, Nov 2015
RESULTS: We identified mutations in CDKL5, SCN2A, SETD5, ALG13, and TBL1XR1 in seven patients with West syndrome, and in SCN1A and GRIN1 in the two patients with unclassified epileptic encephalopathy.
Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1(+/-) patients and in foxg1(+/-) mice.
New
Meloni et al., Siena, Italy. In Eur J Hum Genet, Nov 2015
UNASSIGNED: Rett syndrome (RTT) is a severe neurodevelopmental disorder associated with mutations in either MECP2, CDKL5 or FOXG1.
Dendritic Spine Instability in a Mouse Model of CDKL5 Disorder Is Rescued by Insulin-like Growth Factor 1.
New
Pizzorusso et al., Monterotondo, Italy. In Biol Psychiatry, Oct 2015
BACKGROUND: CDKL5 (cyclin-dependent kinase-like 5) is mutated in many severe neurodevelopmental disorders, including atypical Rett syndrome.
Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.
New
Erçal et al., İzmir, Turkey. In J Child Neurol, Sep 2015
To date, approximately 265 genes have been defined in epilepsy and several genes including STXBP1, ARX, SLC25A22, KCNQ2, CDKL5, SCN1A, and PCDH19 have been found to be associated with early-onset epileptic encephalopathies.
Neurobehavioral phenotype in cyclin-dependent kinase-like 5 syndrome: Case report and review of literature.
New
Visconti et al., Bologna, Italy. In J Pediatr Neurosci, Jul 2015
The phenotype of cyclin-dependent kinase-like 5 (CDKL5) syndrome includes Rett syndrome variant with early onset seizures, early onset epileptic encephalopathy; and severe developmental delay.
Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene.
New
Ceylaner et al., İzmir, Turkey. In Turk J Pediatr, May 2015
Cyclin-dependent kinase-like 5 gene-related epileptic encephalopathy is gradually becoming better known in child neurology practice.
The Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett Syndrome.
Review
Christodoulou et al., Sydney, Australia. In Front Cell Neurosci, 2014
Over 90% of patients with classical RTT have mutations in the X-linked methyl-CpG-binding (MECP2) gene, while other genes, including cyclin-dependent kinase-like 5 (CDKL5), Forkhead box protein G1 (FOXG1), myocyte-specific enhancer factor 2C (MEF2C), and transcription factor 4 (TCF4), have been associated with phenotypes overlapping with RTT.
Genetic disorders associated with postnatal microcephaly.
Review
Paciorkowski et al., In Am J Med Genet C Semin Med Genet, 2014
Among these are classic disorders such as Angelman syndrome and MECP2-related disorder (formerly Rett syndrome), as well as more recently described clinical entities associated with mutations in CASK, CDKL5, CREBBP, and EP300 (Rubinstein-Taybi syndrome), FOXG1, SLC9A6 (Christianson syndrome), and TCF4 (Pitt-Hopkins syndrome).
If not Angelman, what is it? A review of Angelman-like syndromes.
Review
Williams et al., In Am J Med Genet A, 2014
They also include disorders due to mutations in HERC2, adenylosuccinase lyase (ADSL), CDKL5, FOXG1, MECP2 (duplications), MEF2C, and ATRX.
The neurobiology of X-linked intellectual disability.
Review
Passafaro et al., Milano, Italy. In Neuroscientist, 2013
Here, we review recent findings concerning a representative group of XLID proteins: the fragile X mental retardation protein; methyl-CpG-binding protein 2 and cyclin-dependent kinase-like 5 proteins, which are involved in Rett syndrome; the intracellular signaling molecules of the Rho guanosine triphosphatases family; and the class of cell adhesion molecules.
Genetically determined encephalopathy: Rett syndrome.
Review
Bahi-Buisson, Paris, France. In Handb Clin Neurol, 2012
Mutations in cyclin-dependent kinase like 5 (CDKL5) and FoxG1 genes have been identified in the early onset seizure and the congenital variants respectively.
CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.
Impact
Broccoli et al., Milano, Italy. In Nat Cell Biol, 2012
Mutations of the cyclin-dependent kinase-like 5 (CDKL5) and netrin-G1 (NTNG1) genes cause a severe neurodevelopmental disorder with clinical features that are closely related to Rett syndrome, including intellectual disability, early-onset intractable epilepsy and autism.
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
Impact
Gusella et al., Boston, United States. In Cell, 2012
We sequenced BCAs in patients with autism or related NDDs, revealing disruption of 33 loci in four general categories: (1) genes previously associated with abnormal neurodevelopment (e.g., AUTS2, FOXP1, and CDKL5), (2) single-gene contributors to microdeletion syndromes (MBD5, SATB2, EHMT1, and SNURF-SNRPN), (3) novel risk loci (e.g., CHD8, KIRREL3, and ZNF507), and (4) genes associated with later-onset psychiatric disorders (e.g., TCF4, ZNF804A, PDE10A, GRIN2B, and ANK3).
Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations.
GeneRIF
Nickels et al., Rochester, United States. In Pediatr Neurol, 2012
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.
Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases.
GeneRIF
ESRRA group et al., Camaiore, Italy. In Neuropediatrics, 2012
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.
Extrasynaptic N-methyl-D-aspartate (NMDA) receptor stimulation induces cytoplasmic translocation of the CDKL5 kinase and its proteasomal degradation.
GeneRIF
Landsberger et al., Busto Arsizio, Italy. In J Biol Chem, 2011
both subcellular localization and expression of CDKL5 are modulated by the activation of extrasynaptic N-methyl-D-aspartate receptors and suggest regulation of CDKL5 by cell death pathways.
CDKL5 alterations lead to early epileptic encephalopathy in both genders.
GeneRIF
Yamamoto et al., Tokyo, Japan. In Epilepsia, 2011
mutations in early onset epileptic encephalopathy
Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity.
GeneRIF
Limprasert et al., Thailand. In Eur J Paediatr Neurol, 2011
A novel CDKL5 mutation is identified in an ambulatory girl who had severe mental retardation and multiple types of seizures without Rett-like features.
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