(Q28272644)

6

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John Christodoulou

object named as

John Christodoulou

14

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Jenny Downs

3

object named as

Jenny Downs

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author name string

Meredith Wilson

2

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Simon Williams

4

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Alessandra Murgia

5

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Marilena Vecchi

7

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Gladys Ho

8

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Roberta Polli

9

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Stavroula Psoni

10

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Xinhua Bao

11

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Nick de Klerk

12

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Helen Leonard

European Journal of Human Genetics

13

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language of work or name

English

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publication date

March 2013

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published in

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volume

21

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issue

3

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page(s)

266-73

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cites work

Rett syndrome: revised diagnostic criteria and nomenclature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573195

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573195

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573195

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573195

Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573195

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573195

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573195

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573195

Key clinical features to identify girls with CDKL5 mutations

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573195

The three stages of epilepsy in patients with CDKL5 mutations

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573195

Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy

20 March 2017

1 reference

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Seizures and electroencephalographic findings in CDKL5 mutations: case report and review

20 March 2017

1 reference

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573195

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573195

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

20 March 2017

1 reference

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Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity

20 March 2017

1 reference

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

29 September 2017

1 reference

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Epilepsy caused by CDKL5 mutations.

29 September 2017

1 reference

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Investigating genotype-phenotype relationships in Rett syndrome using an international data set.

29 September 2017

1 reference

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WHO Motor Development Study: windows of achievement for six gross motor development milestones

29 September 2017

1 reference

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573195

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

29 September 2017

1 reference

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29 September 2017

1 reference

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Early progressive encephalopathy in boys and MECP2 mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573195

The clinical pattern of the Rett syndrome

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573195

Early onset seizures and Rett-like features associated with mutations in CDKL5.

2 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.156

Identification of the epileptogenic tuber in patients with tuberous sclerosis: a comparison of high-resolution EEG and MEG

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.156

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/10.1038%2FEJHG.2012.156

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.156

A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.156

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.156

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.156

CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.156

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.156

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.156

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.156

Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.156

Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.156

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.156

Clinical phenotype of 5 females with a CDKL5 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.156

CDKL5 alterations lead to early epileptic encephalopathy in both genders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.156

The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.156

Altered attainment of developmental milestones influences the age of diagnosis of rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.156

A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.156

Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573195

Rett syndrome: a study of the face

27 November 2018

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

Is the girl with Rett syndrome normal at birth?

1 reference

12 December 2020

Simultaneous onset of infantile spasms in monozygotic twins

1 reference

12 December 2020

Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2012.156

1 reference

Dimensions Publication ID

1044530968

0 references

1 reference

1 reference

PubMed publication ID

22872100

1 reference