|
Seizures
|
0.500 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Seizures
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Our results show that CDKL5 is responsible for a rare variant of Rett syndrome characterised by early development of convulsions, usually of the spasm type.
|
15689447 |
2005 |
|
Seizures
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Furthermore, this paper contributes to the clarification of the phenotype associated with CDKL5 mutations and indicates that CDKL5 should be analyzed in each patient showing a clinical course similar to RTT but characterized by a lack of an early normal period due to the presence of seizures.
|
15917271 |
2005 |
|
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
Combining our three new cases with the previously published cases, 13/14 patients with CDKL5 mutations presented with seizures before the age of 3 months.
|
16015284 |
2005 |
|
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Combining our three new cases with the previously published cases, 13/14 patients with CDKL5 mutations presented with seizures before the age of 3 months.
|
16015284 |
2005 |
|
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
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 |
|
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
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 |
|
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
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 |
|
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in patients with Rett syndrome, West syndrome, and X-linked infantile spasms sharing the common features of generally intractable early seizures and mental retardation.
|
16935860 |
2006 |
|
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
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 |
|
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
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 |
|
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
This study describes three boys carrying CDKL5 missense mutations and their detailed clinical and EEG data, and indicates that CDKL5 gene mutations may represent a cause of severe or profound mental retardation and early-onset intractable seizures, also in boys.
|
18809835 |
2008 |
|
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
In light of the data presented we discuss the possible phenotypic modulatory effects of the supernumerary wild type X allele and pattern of X chromosome inactivation and stress the importance of considering the causal involvement of CDKL5 in developmentally delayed males with early-onset seizures.
|
19161156 |
2009 |
|
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Among Rett clinical variants, the early-onset seizure variant describes girls with early onset epilepsy and it is caused by mutations in CDKL5.
|
19362436 |
2010 |
|
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
In conclusion, our report suggests that searching for large rearrangements in CDKL5 should be considered in girls with early onset seizures and Rett-like features.
|
19455595 |
2010 |
|
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Our findings demonstrate the first instance of genomic deletion as the molecular basis of CDKL5 deficiency in females and highlight the importance of exon targeted array-CGH analysis for this gene in females with drug-resistant early-onset seizures.
|
19471977 |
2009 |
|
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
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 |
|
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
In our study, the overall frequency of mutations in CDKL5 in women with early-onset seizures is around 8.6%, a result comparable with previous reports.
|
19793311 |
2009 |
|
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
These results suggest that pathogenic CDKL5 mutations are unlikely to be identified in the absence of severe early-onset seizures and highlight the importance of screening for large intragenic and whole gene deletions.
|
20397747 |
2010 |
|
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
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.
|
21293276 |
2011 |
|
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in CDKL5 have been identified both in females with the early onset seizure variant of RTT and in males with X-linked epileptic encephalopathy.
|
21750574 |
2011 |
|
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Development of early onset seizure was a characteristic clinical feature for the patients with CDKL5 alterations in both genders despite polymorphous seizure types, including myoclonic seizures, tonic seizures, and spasms.
|
21770923 |
2011 |
|
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The clinical sensitivity of CDKL5 mutation screening among females with Rett-like features and negative MECP2 screening was 7.8% while the clinical sensitivity among females having cryptogenic intractable seizures with an onset before the ages of 12, 6 and 3 months were 4.7, 11.6 and 14.3%, respectively.
|
21775177 |
2011 |
|
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Recent studies have shown that aberrations of CDKL5 in female patients cause early-onset intractable seizures, severe developmental delay or regression, and Rett syndrome-like features.
|
21802232 |
2012 |