(Q51928093)

17 April 2018

title

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

1 reference

17 April 2018

author

John Christodoulou

8

1 reference

17 April 2018

Jozef Gécz

9

1 reference

17 April 2018

David N. Cooper

14

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17 April 2018

author name string

Julie C Evans

1

1 reference

17 April 2018

Hayley L Archer

2

1 reference

17 April 2018

James P Colley

3

1 reference

17 April 2018

Kirstine Ravn

4

1 reference

17 April 2018

Jytte Bieber Nielsen

5

1 reference

17 April 2018

Alison Kerr

6

1 reference

17 April 2018

Elizabeth Williams

7

1 reference

17 April 2018

Philip E Jardine

10

1 reference

17 April 2018

Michael J Wright

11

1 reference

17 April 2018

Daniela T Pilz

12

1 reference

17 April 2018

Lazarus Lazarou

13

1 reference

17 April 2018

Julian R Sampson

15

1 reference

17 April 2018

Rachel Butler

16

1 reference

17 April 2018

Sharon D Whatley

17

1 reference

17 April 2018

Angus J Clarke

18

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17 April 2018

publication date

1 October 2005

1 reference

17 April 2018

European Journal of Human Genetics

published in

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17 April 2018

volume

13

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17 April 2018

issue

10

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17 April 2018

page(s)

1113-1120

1 reference

17 April 2018

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201451

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201451

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201451

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/10.1038%2FSJ.EJHG.5201451

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201451

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201451

Rett syndrome: clinical review and genetic update

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201451

Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201451

Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201451

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201451

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201451

inferred from DOI database lookup

7 January 2021

based on heuristic

Two affected boys in a Rett syndrome family: clinical and molecular findings

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201451

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201451

1 reference

17 April 2018

PubMed ID

16015284

1 reference

17 April 2018