|
West Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Interestingly these missense mutations that result in a mislocalisation of the CDKL5 protein are associated with severe developmental delay which was apparent within the first months of life characterised by early and generalised hypotonia, and autistic features, and as well as early infantile spasms.
|
17993579 |
2008 |
|
West Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation.
|
16935860 |
2006 |
|
West Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Male children with CDKL5 mutations demonstrate a higher frequency of infantile spasms and brain atrophy, whereas female children often exhibit atypical Rett syndrome with EoEE.
|
31122804 |
2019 |
|
West Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
The ARX and CDKL5 genes have been associated with West syndrome (infantile spasms, hypsarrhythmia, and mental retardation).
|
15689447 |
2005 |
|
West Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) have been described in epileptic encephalopathies in females with infantile spasms with features that overlap with Rett syndrome.
|
22678952 |
2012 |
|
West Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this study we screened several cohorts of children for CDKL5 mutations, totaling 316 patients, including individuals with a clinical diagnosis of RTT but who were negative for MECP2 mutations (n=102), males with X-linked mental retardation (n=9), patients with West syndrome (n=52), patients with autism (n=59), patients with epileptic encephalopathy (n=33), patients with Aicardi syndrome (n=7) and other patients with intellectual disability with or without seizures (n=54).
|
20397747 |
2010 |
|
West Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CDKL5 gene are responsible for 7 with Hanefeld variants of RTT and 2 with early-onset epileptic encephalopathy in 71 girls as well as for 1 infantile spasms in 31 males.
|
24564546 |
2014 |
|
West Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Importantly, one member of the family, CDKL5, has been implicated in atypical Rett syndrome, West syndrome, and X-linked infantile spasm, all including MR as a manifestation.
|
18412109 |
2008 |
|
West Syndrome
|
0.500 |
GeneticVariation
|
disease |
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 |
|
West Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the X-linked gene cyclin-dependent kinase-like 5 (CDKL5) cause an X-linked encephalopathy with early onset intractable epilepsy, including infantile spasms and other seizure types, and a Rett syndrome (RTT)-like phenotype.
|
19780792 |
2010 |
|
West Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
|
15492925 |
2004 |
|
West Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Noteworthy, the CDKL5 mutation rate is high (28%) in women with early-onset seizures and IS.
|
19793311 |
2009 |
|
West Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human CDKL5 gene have been shown to cause infantile spasms, as well as Rett syndrome-like phenotype.
|
21107515 |
2011 |
|
West Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Epilepsy with mutation of the CDKL5 gene causes early seizures and is a variant of Rett syndrome (MIM (312750), which is reported typically as infantile spasms.
|
16326141 |
2006 |
|
West Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene have been described in girls with Rett-like features and early-onset epileptic encephalopathy including infantile spasms.
|
23756444 |
2014 |
|
West Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in the CDKL5 gene (also known as STK9) have recently been shown to cause early onset epilepsy and severe mental retardation (ISSX or West syndrome).
|
16015284 |
2005 |
|
West Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
X-linked cyclin-dependent kinase-like 5 (CDKL5 or STK9) has recently been implicated in atypical Rett and X-linked West syndromes, severe neurological disorders associated with mental retardation, loss of communication and motor skills and infantile spasms and seizures in predominantly females.
|
16330482 |
2005 |
|
West Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) located in the Xp22 region have been shown to cause a subset of atypical Rett syndrome with infantile spasms or early seizures starting in the first postnatal months.
|
22867051 |
2012 |
|
West Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Although the phenotype of CDKL5 mutation is similar to Rett syndrome caused by MECP2 mutation, the former is characterized by early-onset seizures and association with West syndrome.
|
16806828 |
2006 |
|
West Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency.
|
22473288 |
2012 |
|
West Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, our report show that search for mutations in CDKL5 is indicated in girls with early onset of a severe intractable seizure disorder or infantile spasms with severe hypotonia, and in girls with RTT-like phenotype and early onset seizures, though, in our cohort, mutations in CDKL5 account for about 10% of the girls affected by these disorders.
|
18790821 |
2008 |
|
West Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
We identified disease-causing single nucleotide variants in 11 out of 45 individuals affecting genes commonly associated with West syndrome (such as CDKL5, ARX) but also in genes predominantly linked to other epileptic disorders (such as DEPDC5, SCN1A, WDR45, AARS).
|
31791873 |
2019 |
|
West Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A screen for CDKL5 mutations is useful in patients, mainly females, with a history of early onset intractable seizures and becomes mandatory when idiopathic infantile spasms and/or atypical Rett syndrome features are also present.
|
17049193 |
2007 |
|
West Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in the CDKL5 gene in complex genotypes associated with West syndrome with variable phenotype: First description of somatic mosaic state.
|
28780406 |
2017 |
|
West Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here, we report that de novo missense mutations in CDKL5 are associated with a severe phenotype of early-onset infantile spasms and clinical features that overlap those of other neurodevelopmental disorders, such as Rett syndrome and Angelman syndrome.
|
15499549 |
2004 |