Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Both patients with CDKL5 mutation presented therapy-resistant epilepsy and a phenotype fitting with the diagnosis of early-onset variant of RTT.
|
21160487 |
2011 |
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our aim was to describe diaper changing-induced reflex seizures as one of the presenting features in a case of CDKL5-related epilepsy, providing video-EEG documentation and focusing discussion on hyperexcitability determined by the disease.
|
30378547 |
2018 |
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a severe X-linked neurodevelopmental encephalopathy caused by mutations in the <i>CDKL5</i> gene and characterized by early-onset epilepsy and intellectual and motor impairments.
|
31114483 |
2019 |
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
The purpose of this study was to evaluate the frequency of mosaicism detected by next-generation sequencing in genes associated with epilepsy-related neurodevelopmental disorders.MethodsWe conducted a retrospective analysis of 893 probands with epilepsy who had a multigene epilepsy panel or whole-exome sequencing performed in a clinical diagnostic laboratory and were positive for a pathogenic or likely pathogenic variant in one of nine genes (CDKL5, GABRA1, GABRG2, GRIN2B, KCNQ2, MECP2, PCDH19, SCN1A, or SCN2A).
|
28837158 |
2018 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We report on two patients, a boy and a girl, with EIEE2 that present with early onset epilepsy, hypotonia, severe intellectual disability, and poor eye contact.
|
28872899 |
2017 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These findings confirm CDKL5 as another locus associated with epilepsy and X-linked mental retardation.
|
15492925 |
2004 |
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our study suggests that VNS is a generally safe and effective adjunct treatment for CDKL5-associated epilepsy.
|
30071384 |
2018 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The results were evaluated against those of a comparison group of nine infants (aged below 1y) with epileptic encephalography who had tested negative for CDKL5 mutations and deletions.
|
21309761 |
2011 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We identified two epilepsy-associated single nucleotide variants in our case: CDKL5 p.Ala40Val and KCNQ2 p.Glu515Asp.
|
25819767 |
2015 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our large dataset therefore expands on the number of reported males with CDKL5 mutations and highlights that aberrations of CDKL5 and ARX combined are an important consideration in the genetic forms of early-onset epilepsy in boys.
|
23583054 |
2013 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Atypical RS with severe early-onset encephalopathy and therapy-resistant epilepsy can be due to mutations in the CDKL5 (Cyclin-Dependent Kinase-like 5) gene in Xp22.
|
19428276 |
2010 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This study demonstrated the importance of CDKL5 mutations as etiological factors in neurodevelopmental disorders, and indicated that a thorough analysis of the CDKL5 gene sequence and its rearrangements should be considered in females with Rett syndrome-like phenotypes, severe encephalopathy and epilepsy with onset before 5 months of age.
|
22867051 |
2012 |
Epilepsy
|
0.400 |
GeneticVariation
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
It is now clearly emerging that epilepsy has distinctive characteristics in typical Rett syndrome and in the different syndromes caused by CDKL5 and FOXG1 gene alterations.
|
22998673 |
2012 |
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 |
Biomarker
|
disease |
BEFREE |
CDKL5-related epileptic encephalopathies are a group of refractory seizure disorders starting in early infancy.
|
22832775 |
2013 |
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 |
Biomarker
|
disease |
BEFREE |
Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy.
|
26387070 |
2016 |