Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome - Wikidata - wikimedia - TriplyDB

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

http://www.wikidata.org/entity/Q28274920

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Rett syndrome: a wide clinical and autonomic picture.Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients.CDKL5 deficiency entails sleep apneas in mice.Inflammatory protein response in CDKL5-Rett syndrome: evidence of a subclinical smouldering inflammation.Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial.Quantification of walking-based physical activity and sedentary time in individuals with Rett syndrome.Mutation in an alternative transcript of CDKL5 in a boy with early onset seizures.Heterozygous CDKL5 Knockout Female Mice Are a Valuable Animal Model for CDKL5 Disorder.Transcriptome level analysis in Rett syndrome using human samples from different tissues.

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Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

http://www.wikidata.org/entity/Q28274920

description

2016 nî lūn-bûn

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2016 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2016 թվականի ապրիլին հրատարակված գիտական հոդված

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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name

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

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Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

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Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

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type

label

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

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Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

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Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

@nl

prefLabel

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

@ast

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

@en

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

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S13023-016-0418-Y

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Orphanet Journal of Rare Diseases

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Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

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Barbara Anderson

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Jenny Downs

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Kingsley Wong

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Meghana Mangatt

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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

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

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

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

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

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

Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature

The three stages of epilepsy in patients with CDKL5 mutations

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

Key clinical features to identify girls with CDKL5 mutations

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