(Q54252592)

26 May 2018

title

Clinical phenotype of 5 females with a CDKL5 mutation. (English)

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26 May 2018

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Xenia L Stalpers

1

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26 May 2018

Liesbeth Spruijt

series ordinal

2

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26 May 2018

Helger G Yntema

series ordinal

3

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26 May 2018

Aad Verrips

series ordinal

4

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26 May 2018

publication date

15 July 2011

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26 May 2018

Journal of Child Neurology

published in

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26 May 2018

volume

27

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26 May 2018

issue

1

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26 May 2018

page(s)

90-93

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26 May 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1177%2F0883073811413832

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811413832

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811413832

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811413832

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/10.1177%2F0883073811413832

Rett syndrome: revised diagnostic criteria and nomenclature

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811413832

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811413832

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/10.1177%2F0883073811413832

Key clinical features to identify girls with CDKL5 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073811413832

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/10.1177%2F0883073811413832

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/10.1177%2F0883073811413832

21 January 2018

Identifiers

DOI

10.1177/0883073811413832

1 reference

26 May 2018

1 reference

26 May 2018