(Q36930153)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16611748%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16611748%20AND%20SRC:MED&resulttype=core&format=json

Severe mental retardation

19 January 2020

main subject

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16611748%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

author name string

H L Archer

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16611748%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

J Evans

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16611748%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

S Edwards

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16611748%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

J Colley

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16611748%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

R Newbury-Ecob

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16611748%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

M Huyton

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16611748%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

M O'Regan

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16611748%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

J Tolmie

9

1 reference

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19 January 2020

J Sampson

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16611748%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

A Clarke

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16611748%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

J Osborne

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16611748%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

language of work or name

English

0 references

publication date

12 April 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16611748%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

19 January 2020

published in

1 reference

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19 January 2020

volume

43

1 reference

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19 January 2020

issue

9

1 reference

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19 January 2020

page(s)

729-734

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16611748%20AND%20SRC:MED&resulttype=core&format=json

X linked mental retardation: a clinical guide

19 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564572

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564572

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564572

The United Kingdom Infantile Spasms Study comparing vigabatrin with prednisolone or tetracosactide at 14 days: a multicentre, randomised controlled trial

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564572

A proposal for case definitions and outcome measures in studies of infantile spasms and West syndrome: consensus statement of the West Delphi group

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564572

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564572

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564572

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564572

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564572

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564572

Guidelines for reporting clinical features in cases with 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=2564572

Tuberose sclerosis in childhood

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564572

Diffuse cortical dysplasia, or the 'double cortex' syndrome: the clinical and epileptic spectrum in 10 patients.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564572

CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564572

Myoclonic encephalopathy in the CDKL5 gene mutation.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564572

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564572

Classical West "syndrome" phenotype with a subtelomeric 4p trisomy.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564572

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564572

Epilepsy in a representative series of Rett syndrome.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564572

Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564572

An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001

4 September 2018

1 reference

12 December 2020

Infantile spasms associated with proximal duplication of chromosome 15q

1 reference

12 December 2020

Involvement of the autonomic nervous system in the pathophysiology of Rett syndrome

1 reference

12 December 2020

Rett syndrome: characterization of seizures versus non-seizures

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2006.041467

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16611748%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16611748%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference