Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We performed retrospective chart reviews of children at our institution with epilepsy and CDKL5 mutations.Six children were identified.
|
22264704 |
2012 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The severity of epilepsy associated with CDKL5 mutations was recently shown to correlate with the type of CDKL5 mutations and epilepsy was identified to involve three distinct sequential stages.
|
20493745 |
2011 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our findings suggest that CDKL5 mutations likely play a direct role in psychomotor development, whereas epilepsy is one of the clinical features associated with this complex disorder.
|
31225800 |
2019 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Early epilepsy with normal interictal EEG and severe hypotonia are the key clinical features in identifying patients likely to have CDKL5 mutations.
|
18790821 |
2008 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We retrospectively analyzed the electroclinical phenotypes of 12 patients aged from 2.5 to 19 years diagnosed with pathogenic CDKL5 mutations and one patient with a novel intronic sequence variation of uncertain pathogenicity and examined whether the severity of the epilepsy was linked to the type and location of mutations.
|
18266744 |
2008 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder.
|
19471977 |
2009 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
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 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
It has been found that CDKL5 gene mutations are responsible for early-onset epilepsy and drug resistance.
|
19241098 |
2009 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
All patients underwent video/EEG monitoring and molecular analysis of the MECP2 gene or, in negative cases, of the CDKL5 and FOXG1 genes.The frequency of epilepsy was 79%.
|
20728410 |
2010 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The consequent misexpression of the CDKL5 protein in the nervous system leads to a severe phenotype characterized by intellectual disability, motor impairment, visual deficits and early-onset epilepsy.
|
29474534 |
2018 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
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 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Group 1 comprised 73 patients (57 female, 16 male) referred to Cardiff for CDKL5 analysis, of whom 49 (42 female, 7 male) had epileptic seizure onset in the first six months of life.
|
16611748 |
2006 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Early epilepsy with normal interictal EEG and severe hypotonia are the key clinical features in identifying patients likely to have CDKL5 mutations.
|
18790821 |
2008 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In order to clarify the CDKL5 genotype-phenotype correlations in Chinese patients, CDKL5 mutational screening in cases with early-onset epileptic encephalopathies and RTT without MECP2 mutation were performed.
|
24564546 |
2014 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Four probands had de novo mutations in genes previously shown to harbor heterozygous mutations in patients with severe, early onset epilepsies (two in SCN1A, and one each in CDKL5 and EEF1A2).
|
23647072 |
2013 |
Epilepsy
|
0.400 |
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 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Thus, a CDKL5 investigation should be performed in developmentally delayed patients with early-onset seizures, including drug-resistant subjects with severe EEG changes, as well as in patients with milder, drug-responsive forms of epilepsy.
|
18063413 |
2008 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
These findings confirm CDKL5 as another locus associated with epilepsy and X-linked mental retardation.
|
15492925 |
2004 |
Epilepsy
|
0.400 |
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 |