Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene cause a severe neurodevelopmental disorder, CDKL5 deficiency disorder (CDD).
|
31469994 |
2020 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Cyclin-dependent kinase-like 5 (CDKL5) is a serine/threonine protein kinase, with its gene mutation leading to a neurodevelopmental disorder.
|
30447183 |
2019 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
It has been established that alterations in cyclin-dependent kinase-like 5 (<i>CDKL5</i>) or forkhead box protein G1 (<i>FOXG1</i>) correspond to distinct neurodevelopmental disorders, given that a series of studies have indicated that RTT is also caused by alterations in either one of these genes.
|
31717404 |
2019 |
Neurodevelopmental Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
The results from the study will help to undertake further research on the role of phosphorylated CDKL5 in the onset of neurodevelopmental disorders caused by mutations in higher eukaryotic systems.
|
30569538 |
2019 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations in the Cyclin-dependent kinase-like 5 (CDKL5) gene cause severe neurodevelopmental disorders.
|
29702698 |
2018 |
Neurodevelopmental Disorders
|
0.400 |
Biomarker
|
group |
CTD_human |
De novo variants in neurodevelopmental disorders with epilepsy.
|
29942082 |
2018 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The purpose of this study was to evaluate the frequency of mosaicism detected by next-generation sequencing in genes associated with epilepsy-related neurodevelopmental disorders.MethodsWe conducted a retrospective analysis of 893 probands with epilepsy who had a multigene epilepsy panel or whole-exome sequencing performed in a clinical diagnostic laboratory and were positive for a pathogenic or likely pathogenic variant in one of nine genes (CDKL5, GABRA1, GABRG2, GRIN2B, KCNQ2, MECP2, PCDH19, SCN1A, or SCN2A).
|
28837158 |
2018 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations in the Cyclin-dependent kinase-like 5 (CDKL5) gene cause severe neurodevelopmental disorders accompanied by intractable epilepsies, i.e.
|
28688852 |
2017 |
Neurodevelopmental Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
These results suggest a novel role for CDKL5 in the regulation of synaptic function and uncover an intriguing microcircuit mechanism underlying impaired learning and memory.<b>SIGNIFICANCE STATEMENT</b> Cyclin-dependent kinase-like 5 (CDKL5) deficiency is a severe neurodevelopmental disorder caused by mutations in the <i>CDKL5</i> gene.
|
28674172 |
2017 |
Neurodevelopmental Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Mammalian models of CDKL5 disorder are currently limited to mouse, and little is known about Cdkl5 in other organisms used to model neurodevelopmental disorders, such as rat.
|
27940108 |
2017 |
Neurodevelopmental Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Cyclin-dependent kinase-like 5 (CDKL5) is a Ser/Thr protein kinase primarily expressed in the central nervous system and is known to cause X-linked neurodevelopmental disorders such as Rett syndrome.
|
27840050 |
2017 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The cyclin-dependent kinase-like 5 (CDKL5) gene has been associated with rare neurodevelopmental disorders characterized by the early onset of seizures and intellectual disability.
|
28740074 |
2017 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Rett syndrome (RTT) is a neurodevelopmental disorder caused primarily by de novo mutations in MECP2 and sometimes in CDKL5 and FOXG1.
|
27171548 |
2017 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We identified disease-causing mutations in known genes associated with neurodevelopmental disorders including GNAO1 and CDKL5 in two of four individuals.
|
27343026 |
2016 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
An involvement of the immune system has been suggested in Rett syndrome (RTT), a devastating neurodevelopmental disorder related to oxidative stress, and caused by a mutation in the methyl-CpG binding protein 2 gene (MECP2) or, more rarely, cyclin-dependent kinase-like 5 (CDKL5).
|
26236424 |
2015 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Rett syndrome (RTT), a neurodevelopmental disorder affecting exclusively (99%) female infants, is associated with loss-of-function mutations in the gene encoding methyl-CpG binding protein 2 (MECP2) and, more rarely, cyclin-dependent kinase-like 5 (CDKL5) and forkhead box protein G1 (FOXG1).
|
25389532 |
2014 |
Neurodevelopmental Disorders
|
0.400 |
AlteredExpression
|
group |
BEFREE |
The association of CDKL5 with neurodevelopmental disorders and its high expression levels in the maturing brain underscore the importance of this kinase for proper brain development.
|
22779007 |
2012 |
Neurodevelopmental Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
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).
|
22521361 |
2012 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
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.
|
22922712 |
2012 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
This study demonstrated the importance of CDKL5 mutations as etiological factors in neurodevelopmental disorders, and indicated that a thorough analysis of the CDKL5 gene sequence and its rearrangements should be considered in females with Rett syndrome-like phenotypes, severe encephalopathy and epilepsy with onset before 5 months of age.
|
22867051 |
2012 |
Neurodevelopmental Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
The screening was negative for all men as well as for women with Aicardi syndrome, excluding the CDKL5 gene as a candidate for this neurodevelopmental disorder.
|
19793311 |
2009 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been shown to cause severe neurodevelopmental disorders including infantile spasms, encephalopathy, West-syndrome and an early-onset variant of Rett syndrome.
|
19740913 |
2009 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have recently been reported in patients with severe neurodevelopmental disorder characterized by early-onset seizures, infantile spasms, severe psychomotor impairment and very recently, in patients with Rett syndrome (RTT)-like phenotype.
|
19253388 |
2009 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
These results suggest that inactivation of the CDKL5 kinase can lead to severe neurodevelopmental disorders.
|
16330482 |
2005 |
Neurodevelopmental Disorders
|
0.400 |
AlteredExpression
|
group |
BEFREE |
The mutations are located within the protein kinase domain and affect highly conserved amino acids; this strongly suggests that impaired CDKL5 catalytic activity plays an important role in the pathogenesis of this neurodevelopmental disorder.
|
15499549 |
2004 |