(Q54505733)

30 May 2018

title

Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. (English)

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1

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Andrée Delahaye

object named as

Andrée Delahaye

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author name string

Nathalie Villeneuve

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Emilie Caietta

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Aurélia Jacquette

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Helene Maurey

5

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Gert Matthijs

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Hilde Van Esch

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Anne Moncla

9

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Mathieu Milh

10

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Flore Zufferey

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Bertrand Diebold

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Thierry Bienvenu

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language of work or name

English

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publication date

7 June 2012

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American Journal of Medical Genetics

published in

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volume

158A

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issue

7

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page(s)

1612-1619

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

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

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The three stages of epilepsy in patients with CDKL5 mutations

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Key clinical features to identify girls with CDKL5 mutations

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

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Myoclonic encephalopathy in the CDKL5 gene mutation.

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Activation mechanism of the MAP kinase ERK2 by dual phosphorylation

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Epilepsy caused by CDKL5 mutations.

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

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The protein kinase family: conserved features and deduced phylogeny of the catalytic domains

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

21 January 2018

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

21 January 2018

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CDKL5 alterations lead to early epileptic encephalopathy in both genders

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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Rett syndrome: revised diagnostic criteria and nomenclature

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

21 January 2018

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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

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Early infantile onset ''congenital'' Rett syndrome variants: Swedish experience through four decades and mutation analysis.

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CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery

21 January 2018

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

21 January 2018

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CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail

21 January 2018

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

21 January 2018

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

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35401

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/10.1002%2FAJMG.A.35401

Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.35401

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35401

A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35401

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.35401

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30 May 2018

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30 May 2018