|
Rett Syndrome, Atypical
|
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 |
|
Rett Syndrome, Atypical
|
0.500 |
Biomarker
|
disease |
BEFREE |
Expression pattern of cdkl5 during zebrafish early development: implications for use as model for atypical Rett syndrome.
|
29752575 |
2018 |
|
Rett Syndrome, Atypical
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel CDKL5 mutation in a Japanese patient with atypical Rett syndrome.
|
27265524 |
2016 |
|
Rett Syndrome, Atypical
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy.
|
27187038 |
2016 |
|
Rett Syndrome, Atypical
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
CDKL5 mutation is associated with an atypical Rett syndrome (RTT) variant.
|
26006105 |
2015 |
|
Rett Syndrome, Atypical
|
0.500 |
Biomarker
|
disease |
BEFREE |
CDKL5-related encephalopathy is an X-linked dominantly inherited disorder that is characterized by early infantile epileptic encephalopathy or atypical Rett syndrome.
|
25819767 |
2015 |
|
Rett Syndrome, Atypical
|
0.500 |
Biomarker
|
disease |
BEFREE |
It is probable that screening of exons 19-21 of the CDKL5 gene is not useful in practical molecular diagnosis of atypical Rett syndrome.
|
23756444 |
2014 |
|
Rett Syndrome, Atypical
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We have screened the CDKL5 gene in 44 patients with atypical Rett syndrome who had tested negative for MECP2 gene mutations and have identified 6 sequence variants, out of which three were novel and three known mutations.
|
23242510 |
2013 |
|
Rett Syndrome, Atypical
|
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 |
|
Rett Syndrome, Atypical
|
0.500 |
Biomarker
|
disease |
BEFREE |
The progressive parting of CDKL5- and FOXG1-gene-related encephalopathies from the core Rett syndrome is reflected by the effort to produce clearer diagnostic criteria for typical and atypical Rett syndrome.
|
22998673 |
2012 |
|
Rett Syndrome, Atypical
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
Genes of early-onset epileptic encephalopathies: from genotype to phenotype.
|
22196487 |
2012 |
|
Rett Syndrome, Atypical
|
0.500 |
Biomarker
|
disease |
BEFREE |
The CDKL5 gene has been implicated in the molecular etiology of early-onset intractable seizures with infantile spasms (IS), severe hypotonia and atypical Rett syndrome (RTT) features.
|
19793311 |
2009 |
|
Rett Syndrome, Atypical
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We screened the entire coding region of CDKL5 in 151 affected girls with a clinically heterogeneous phenotype ranging from encephalopathy with epilepsy to atypical Rett syndrome by denaturing high liquid performance chromatography and direct sequencing, and we identified three novel missense mutations located in catalytic domain (p.Ala40Val, p.Arg65Gln, p.Leu220Pro).
|
17993579 |
2008 |
|
Rett Syndrome, Atypical
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Rett Syndrome, Atypical
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|