Infantile Spasm
|
0.200 |
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 |
Infantile Spasm
|
0.200 |
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 |
Infantile Spasm
|
0.200 |
Biomarker
|
disease |
BEFREE |
Recently, two novel genes, ARX and CDKL5, have been found to be responsible for cryptogenic West syndrome or infantile spasms.
|
16806828 |
2006 |
Infantile Spasm
|
0.200 |
Biomarker
|
disease |
BEFREE |
The ARX and CDKL5 genes have been associated with West syndrome (infantile spasms, hypsarrhythmia, and mental retardation).
|
15689447 |
2005 |
Infantile Spasm
|
0.200 |
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 |
Infantile Spasm
|
0.200 |
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 |
Infantile Spasm
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
|
15492925 |
2004 |
Infantile Spasm
|
0.200 |
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 |
Infantile Spasm
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Infantile Spasm
|
0.200 |
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 |
Infantile Spasm
|
0.200 |
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 |
Infantile Spasm
|
0.200 |
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 |
Infantile Spasm
|
0.200 |
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 |
Infantile Spasm
|
0.200 |
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 |
Infantile Spasm
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation.
|
16935860 |
2006 |
Infantile Spasm
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
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.
|
16611748 |
2006 |
Infantile Spasm
|
0.200 |
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 |
Infantile Spasm
|
0.200 |
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 |
Infantile Spasm
|
0.200 |
Biomarker
|
disease |
BEFREE |
Although null mutations of ARX in human patients result in the severe neurologic syndrome XLAG (X-linked lissencephaly associated with abnormal genitalia), the most common mutation is the expansion of the first polyalanine tract of ARX, which results primarily in the clinical syndrome ISSX (infantile spasms).
|
24236044 |
2013 |
Infantile Spasm
|
0.200 |
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 |
Infantile Spasm
|
0.200 |
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 |
Infantile Spasm
|
0.200 |
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 |
Infantile Spasm
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Noteworthy, the CDKL5 mutation rate is high (28%) in women with early-onset seizures and IS.
|
19793311 |
2009 |