Genetics, molecular biology, and phenotypes of x-linked epilepsy (Q38164570)

30 August 2017

title

Genetics, molecular biology, and phenotypes of x-linked epilepsy (English)

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30 August 2017

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1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24258407%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

author name string

Wen Zheng

series ordinal

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24258407%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Zhi Song

series ordinal

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24258407%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

publication date

22 November 2013

1 reference

30 August 2017

published in

Molecular Neurobiology

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24258407%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

volume

49

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24258407%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24258407%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

page(s)

1166-1180

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24258407%20AND%20SRC:MED&resulttype=core&format=json

Epilepsy genetics--past, present, and future

8 June 2020

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ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression

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Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations

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ARX: a gene for all seasons

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The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees.

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ARX spectrum disorders: making inroads into the molecular pathology

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Ohtahara syndrome with emphasis on recent genetic discovery.

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Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

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Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females

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Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

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ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

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Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogenesis

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Inactivation of Arx, the murine ortholog of the X-linked lissencephaly with ambiguous genitalia gene, leads to severe disorganization of the ventral telencephalon with impaired neuronal migration and differentiation

21 January 2018

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Arx is a direct target of Dlx2 and thereby contributes to the tangential migration of GABAergic interneurons

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21 January 2018

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Xenopus aristaless-related homeobox (xARX) gene product functions as both a transcriptional activator and repressor in forebrain development

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A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy

21 January 2018

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21 January 2018

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Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing

21 January 2018

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X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

21 January 2018

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21 January 2018

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Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

21 January 2018

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Protocadherin 19 mutations in girls with infantile-onset epilepsy

21 January 2018

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21 January 2018

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Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.

21 January 2018

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Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

21 January 2018

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21 January 2018

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21 January 2018

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A genetic diagnostic approach to infantile epileptic encephalopathies

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Epilepsy and mental retardation limited to females: an under-recognized disorder

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Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects

21 January 2018

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Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons

21 January 2018

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Interaction between LIS1 and doublecortin, two lissencephaly gene products

21 January 2018

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X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27.

21 January 2018

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SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

21 January 2018

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A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition

21 January 2018

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Identification of a mitochondrial Na+/H+ exchanger

21 January 2018

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The Na+/H+ exchanger NHE6 in the endosomal recycling system is involved in the development of apical bile canalicular surface domains in HepG2 cells

21 January 2018

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Cell surface levels of organellar Na+/H+ exchanger isoform 6 are regulated by interaction with RACK1.

21 January 2018

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Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28

21 January 2018

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Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28.

21 January 2018

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

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MeCP2 and Rett syndrome: reversibility and potential avenues for therapy.

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Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.

21 January 2018

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Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.

21 January 2018

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Parental origin of de novo MECP2 mutations in Rett syndrome

21 January 2018

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MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin

21 January 2018

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A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

21 January 2018

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The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform

21 January 2018

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MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions

21 January 2018

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DNA binding selectivity of MeCP2 due to a requirement for A/T sequences adjacent to methyl-CpG.

21 January 2018

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Structure-specific binding of MeCP2 to four-way junction DNA through its methyl CpG-binding domain

21 January 2018

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Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

21 January 2018

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The Ski protein family is required for MeCP2-mediated transcriptional repression

21 January 2018

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The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.

21 January 2018

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Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.

21 January 2018

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Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.

21 January 2018

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

21 January 2018

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

21 January 2018

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Rett syndrome: clinical characteristics and recent genetic advances

21 January 2018

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Non-cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology

21 January 2018

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Rett syndrome astrocytes are abnormal and spread MeCP2 deficiency through gap junctions

21 January 2018

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Rett syndrome microglia damage dendrites and synapses by the elevated release of glutamate

21 January 2018

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A role for glia in the progression of Rett's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

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

21 January 2018

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Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum disorders

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein

21 January 2018

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Mutations and polymorphisms in the human methyl CpG-binding protein MECP2

21 January 2018

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Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

21 January 2018

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The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse.

21 January 2018

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Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

21 January 2018

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Adult neural function requires MeCP2.

21 January 2018

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Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: linkage analysis and clinical findings in a three-generation Sardinian family.

21 January 2018

1 reference

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Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

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/10.1007%2FS12035-013-8589-1

Key clinical features to identify girls with CDKL5 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

CDKL5 MUTATIONS IN BOYS WITH SEVERE ENCEPHALOPATHY AND EARLY-ONSET INTRACTABLE EPILEPSY

21 January 2018

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

21 January 2018

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Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature

21 January 2018

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A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.

21 January 2018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

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/10.1007%2FS12035-013-8589-1

A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

ARX mutations in X-linked lissencephaly with abnormal genitalia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

X-linked lissencephaly with abnormal genitalia associated with renal phosphate wasting

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

Screening of the ARX gene in 682 retarded males.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

Cognitive and behavioral profile in females with epilepsy with PDCH19 mutation: two novel mutations and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

A novel PCDH19 mutation inherited from an unaffected mother

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

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/10.1007%2FS12035-013-8589-1

MECP2 duplication syndrome in both genders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

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/10.1007%2FS12035-013-8589-1

Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

MECP2 mutation in male patients with non-specific X-linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-013-8589-1

The epileptic hypothesis: developmentally related arguments based on animal models

21 January 2018

1 reference

12 December 2020

MECP2 Duplication Syndrome

1 reference

12 December 2020

A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia

1 reference

12 December 2020

What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy

1 reference

12 December 2020

1 reference

12 December 2020

Natural history of Christianson syndrome

1 reference

12 December 2020

The structure of the human synapsin I gene and protein

1 reference

12 December 2020

The methyl-CpG binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA

1 reference

12 December 2020

Characterization of mutations in the gene doublecortin in patients with double cortex syndrome

1 reference

12 December 2020

MeCP2 dysfunction in humans and mice

1 reference

12 December 2020

Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome

1 reference

12 December 2020

Polyalanine expansion of ARX associated with cryptogenic West syndrome

1 reference

12 December 2020

ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenotypic and molecular characterization of a novel DCX deletion and a review of the literature

1 reference

12 December 2020

Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation

1 reference

12 December 2020

Linking epigenetics to human disease and Rett syndrome: the emerging novel and challenging concepts in MeCP2 research

1 reference

12 December 2020

Two candidate downstream target genes for E2A-HLF

1 reference

12 December 2020