Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies. (Q38045465)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22998673 AND SRC:MED&resulttype=core&format=json

13 February 2020

title

Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22998673 AND SRC:MED&resulttype=core&format=json

13 February 2020

0 references

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22998673 AND SRC:MED&resulttype=core&format=json

13 February 2020

1

Renzo Guerrini

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22998673 AND SRC:MED&resulttype=core&format=json

13 February 2020

language of work or name

1 reference

21 September 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22998673 AND SRC:MED&resulttype=core&format=json

13 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22998673 AND SRC:MED&resulttype=core&format=json

13 February 2020

volume

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22998673 AND SRC:MED&resulttype=core&format=json

13 February 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22998673 AND SRC:MED&resulttype=core&format=json

13 February 2020

page(s)

2067-2078

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22998673 AND SRC:MED&resulttype=core&format=json

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

13 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

FOXG1 is responsible for the congenital variant of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Key clinical features to identify girls with CDKL5 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

The three stages of epilepsy in patients with CDKL5 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Altered development of glutamate and GABA receptors in the basal ganglia of girls with Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Development of amino acid receptors in frontal cortex from girls with Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Molecular mechanisms of cognitive and behavioral comorbidities of epilepsy in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Identification of MeCP2 mutations in a series of females with autistic disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

CDKL5 is a brain MeCP2 target gene regulated by DNA methylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Selective cerebral volume reduction in Rett syndrome: a multiple-approach MR imaging study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Epilepsy caused by CDKL5 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

The story of Rett syndrome: from clinic to neurobiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

MeCP2, a key contributor to neurological disease, activates and represses transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

CDKL5, a protein associated with rett syndrome, regulates neuronal morphogenesis via Rac1 signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

MECP2 mutation in a boy with language disorder and schizophrenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Mild overexpression of MeCP2 causes a progressive neurological disorder in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Intact long-term potentiation but reduced connectivity between neocortical layer 5 pyramidal neurons in a mouse model of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Dual role of brain factor-1 in regulating growth and patterning of the cerebral hemispheres

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Disruption of Foxg1 expression by knock-in of cre recombinase: effects on the development of the mouse telencephalon

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Neurologic aspects of MECP2 gene duplication in male patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Epilepsy and the natural history of Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Cortical reflex myoclonus in rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Rett variants: a suggested model for inclusion criteria

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Foxg1 suppresses early cortical cell fate

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Electroclinical signs of benign neonatal familial convulsions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

The spectrum of phenotypes in females with Rett Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Rett Syndrome -- an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Seizures in Rett syndrome: an overview from a one-year calendar study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Cyclin-dependent kinase-like 5 binds and phosphorylates DNA methyltransferase 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Early progressive encephalopathy in boys and MECP2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Rett syndrome: from the gene to the disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

14q12 Microdeletion syndrome and congenital variant of Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Foxg1 confines Cajal-Retzius neuronogenesis and hippocampal morphogenesis to the dorsomedial pallium.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

A transcriptional repressor MeCP2 causing Rett syndrome is expressed in embryonic non-neuronal cells and controls their growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Rett syndrome: Revised diagnostic criteria and nomenclature

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Rett syndrome: North American database

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Epilepsy in Rett syndrome: clinical and genetic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

The MECP2 duplication syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

FoxG1 and TLE2 act cooperatively to regulate ventral telencephalon formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Foxg1 haploinsufficiency reduces the population of cortical intermediate progenitor cells: effect of increased p21 expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Mecp2 deficiency leads to delayed maturation and altered gene expression in hippocampal neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Telencephalon-restricted expression of BF-1, a new member of the HNF-3/fork head gene family, in the developing rat brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

Winged helix transcription factor BF-1 is essential for the development of the cerebral hemispheres

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1528-1167.2012.03656.X