CDKL5 Antibody

1. mutations in the CDKL5 gene in complex genotypes associated with West syndrome with variable phenotype PMID: 28780406
2. The genetic etiology of Rett syndrome (RTT) without MECP2, CDKL5, and FOXG1 mutations is heterogeneous, overlaps with other NDDs, and complicated by a high mutation burden. Dysregulation of chromatin structure and abnormal excitatory synaptic signaling may form two common pathological bases of RTT. PMID: 27171548
3. Although abilities were markedly impaired for the majority with the CDKL5 disorder, some females and a few males had better functional abilities. This variability may be related to underlying gene variants, with females with a late truncating variant having better levels of ability than those with no functional protein. PMID: 27528505
4. We have characterised the predominant brain isoform of CDKL5, a 9.7 kb transcript comprised of 18 exons with a large 6.6 kb 3'-untranslated region (UTR), which we name hCDKL5_1. In addition we describe new exonic regions and a range of novel splice and UTR isoforms PMID: 27315173
5. In the asymptomatic mother, the mutated copy of the CDKL5 gene was inactivated in 90% of blood cells. We also identified a premature stop codon (p.Arg926*) in IQSEC2 in a patient with a Rett-like phenotype. Finally, exome sequencing enabled us to characterize a heterozygous de novo missense (p.Val408Ala) in KCNA2 in a girl with infantile-onset seizures variant of Rett syndrome (RTT) PMID: 27062609
6. The results suggested the mutant CDKL5 was responsible for the Rett syndrome disease. PMID: 27265524
7. Rett syndrome with early epilepsy and the congenital variant are mainly due to variations in the CDKL5 and FOXG1 genes, respectively PMID: 26239053
8. Mutations in exon 8 of cyclin-dependent kinase-like 5 gene were determined to be disease-causing in epileptic encephalopathy. PMID: 26701947
9. study presents the genotype of 2 sisters, a CDKL5 mutation c. 283-3_290del, but different phenotype PMID: 25762588
10. 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. PMID: 25315662
11. It was indicated that CDKL5 controls excitatory synaptic transmission and the conditions associated with CDKL5 deviation in man indicates synaptic abnormalities. PMID: 25864828
12. CDKL5 gene mutations accounted for 5.4% of boys with early onset epileptic encephalopathy PMID: 25266480
13. CDKL5 gene is not useful in practical molecular diagnosis of atypical Rett syndrome. PMID: 23756444
14. Its mutation causes Rett syndrome.(review) PMID: 24738188
15. Mutations in the CDKL5 gene associtaed with Hanefield variants of Rett syndrome and early-onset epileptic encephalopathies. PMID: 24564546
16. 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 PMID: 23828526
17. CDKL5 mutations cause severe epilepsy in infancy with subsequent epileptic encephalopathy. PMID: 22832775
18. aberrations of CDKL5 and ARX combined are an important consideration in the genetic forms of early-onset epilepsy in boys PMID: 23583054
19. 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. PMID: 23242510
20. study examines the presence of breathing and sleep abnormalities in a small series of patients with CDKL5 mutations PMID: 23151060
21. 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. PMID: 22779007
22. a functional axis between MYCN and CDKL5 governing both neuron proliferation rate and differentiation. PMID: 22921766
23. CDKL5 is localized at excitatory synapses and contributes to correct dendritic spine structure and synapse activity. PMID: 22922712
24. 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. PMID: 22867051
25. Identification of eleven novel sequence variations including four pathogenic mutations in the CDKL5 gene. PMID: 23064044
26. Recurrent mutations in the CDKL5 gene in patients with epileptic encephalopathies can be associated with either a milder or a more severe phenotype. PMID: 22678952
27. 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. PMID: 22430159
28. A novel CDKL5 mutation is identified in an ambulatory girl who had severe mental retardation and multiple types of seizures without Rett-like features. PMID: 21775177
29. 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. PMID: 22264704
30. This study present clinical phenotype of 5 girls having a mutation in the CDKL5 gene PMID: 21765152
31. 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. PMID: 21750574
32. CDKL5 deficit may induce changes in synaptic plasticity in the patient's brain. PMID: 21107515
33. mutations in early onset epileptic encephalopathy PMID: 21770923
34. 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. PMID: 20493745
35. A novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. PMID: 21318334
36. 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. PMID: 21293276
37. the distinctive hypermotor-tonic-spasms sequence is a feature of CDKL5 epileptic encephalopathy. PMID: 21502606
38. CDKL5 exon 16b should now be considered in the genetic screening of patients presenting with a CDKL5-related disease profile. PMID: 21124335
39. Infants with CDKL5-related early epileptic encephalopathy can present in the first year of life with an unusual. PMID: 21309761
40. CDKL5 mutation is associated with epileptic encephalopathy. PMID: 20602487
41. Data indicate that MEF2C missense de novo mutations in severe mental retardation showed diminished MECP2 and CDKL5 expression. PMID: 20513142
42. 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. PMID: 20397747
43. a novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late onset seizure disorder. PMID: 19428276
44. 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. PMID: 19780792
45. CDKL5 is involved in pre-mRNA processing, by controlling splicing factor dynamics. PMID: 19740913
46. CDKL5 mutations are associated with epilepsy, X-linked mental retardation and a clinical phenotype that overlaps Rett syndrome. PMID: 15492925
47. A proportion of Rett syndrome atypical cases may result from mutations in CDKL5. (review) PMID: 15635068
48. 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 PMID: 15917271
49. 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 PMID: 16015284
50. 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. PMID: 16326141

显示更多

收起更多

HGNC: 11411

OMIM: 300203

KEGG: hsa:6792

STRING: 9606.ENSP00000369325

UniGene: Hs.659851