|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
CDKL5-related epileptic encephalopathies are a group of refractory seizure disorders starting in early infancy.
|
22832775 |
2013 |
|
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 |
|
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
New insights in phenomenology and treatment of epilepsy in CDKL5 encephalopathy.
|
30898514 |
2019 |
|
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
The systematic search took place in February/2017 and updated in December/2017 using the keywords "epilepsy" or "Dravet" or "Lennox-Gastaut" or "CDKL5" combined with "Cannabis," "cannabinoid," "cannabidiol," or "CBD" resulting in 199 papers.
|
30258398 |
2018 |
|
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
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 |
Biomarker
|
disease |
BEFREE |
In conclusion, this report reinforces the observation that the CDKL5 phenotype overlaps with RTT and that CDKL5 analysis is recommended in patients with a seizure disorder commencing during the first months of life.
|
19253388 |
2009 |
|
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
We recommend screening CDKL5 for boys with pharmarco-resistant epilepsy and a trial of benzodiazepines for Infantile Epileptic Encephalopathy (IEE).
|
25085838 |
2015 |
|
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Given the overlapping and heterogeneous clinical features of CDKL5- and ARX-related epilepsies and SMEI/DS, we postulated that CDKL5 mutations in females and ARX mutations gene in males may be associated with early onset seizures forms of SMEI/DS.
|
19734009 |
2009 |
|
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Moreover, this report reinforces the observation that the CDKL5 phenotype overlaps with Rett syndrome and that CDKL5 gene analysis is recommended in females with a seizure disorder commencing in the first weeks of life.
|
16813600 |
2006 |
|
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Cyclin-dependent kinase-like 5 (CDKL5) deficiency is a neurodevelopmental disorder characterized by epileptic seizures, severe intellectual disability, and autistic features.
|
28674172 |
2017 |
|
Epilepsy
|
0.400 |
Biomarker
|
disease |
CTD_human |
De novo variants in neurodevelopmental disorders with epilepsy.
|
29942082 |
2018 |
|
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 |
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 |
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 |