Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the CDKL5 (cyclin-dependent kinase-like 5) gene cause CDKL5 Deficiency Disorder (CDD), a severe neurodevelopmental syndrome where patients exhibit early-onset seizures, intellectual disability, stereotypies, limited or absent speech, autism-like symptoms and sensory impairments.
|
31472213 |
2019 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Progressive transition from this seizure type to epileptic spasms in clusters seems to result from increasing expression of the CDKL5 gene, as the child grows older.
|
30898514 |
2019 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Pathogenic mutations in cyclin-dependent kinase-like 5 (<i>CDKL5</i>) result in CDKL5 deficiency disorder (CDD), a rare disease marked by early-life seizures, autistic behaviors, and intellectual disability.
|
30952813 |
2019 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Loss-of-function mutations in CDKL5 kinase cause severe neurodevelopmental delay and early-onset seizures.
|
30266824 |
2018 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Diaper changing-induced reflex seizures in CDKL5-related epilepsy.
|
30378547 |
2018 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
In addition to a FOXG1 mutation in a patient with all core features of the congenital variant of RTT, we identified a missense (p.Ser240Thr) in CDKL5 in a patient who appeared to be seizure free.
|
27062609 |
2017 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
These data indicate that CDKL5 plays an important role in controlling postsynaptic localization of the GluN2B-SAP102 complex in the hippocampus and thereby regulates seizure susceptibility, and that aberrant NMDA receptor-mediated synaptic transmission underlies the pathological mechanisms of the CDKL5 loss-of-function.
|
28688852 |
2017 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The cyclin-dependent kinase-like 5 (CDKL5) gene has been associated with rare neurodevelopmental disorders characterized by the early onset of seizures and intellectual disability.
|
28740074 |
2017 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The aim of this study was to analyse the CDKL5 gene in Czech patients with early-onset seizures and Rett-like features.
|
27187038 |
2016 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The common features of all female patients with CDKL5 gene mutations included refractory seizures starting before 4 months of age, severe psychomotor retardation, Rett-like features such as hand stereotypies, deceleration of head growth after birth and poor prognosis.
|
24564546 |
2014 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the CDKL5 gene have been associated with the early-onset seizure variant of Rett syndrome and mutations in FOXG1 have been associated with the congenital Rett syndrome variant.
|
22968132 |
2013 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in patients with atypical Rett syndrome, X-linked infantile spasms sharing common features of generally early-onset seizures and mental retardation.
|
23242510 |
2013 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in cyclin-dependent kinase like 5 (CDKL5) and FoxG1 genes have been identified in the early onset seizure and the congenital variants respectively.
|
23622176 |
2013 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the CDKL5 (cyclin-dependent kinase-like 5) gene are associated with a severe epileptic encephalopathy (early infantile epileptic encephalopathy type 2, EIEE2) characterized by early-onset intractable seizures, infantile spasms, severe developmental delay, intellectual disability, and Rett syndrome (RTT)-like features.
|
22921766 |
2013 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
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 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
CTD_human |
Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations.
|
22264704 |
2012 |
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 |
Seizures
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The Hanefeld variant, or early-onset seizure variant, has been associated with mutations in CDKL5 gene.
|
22430159 |
2012 |
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 |
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 |
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 |
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 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 |
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 |