Key clinical features to identify girls with CDKL5 mutations - Wikidata - wikimedia - TriplyDB

Key clinical features to identify girls with CDKL5 mutations

Key clinical features to identify girls with CDKL5 mutations

http://www.wikidata.org/entity/Q28293847

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Seizures and X-linked intellectual disability Rett syndrome: revised diagnostic criteria and nomenclature Obtaining genetic testing in pediatric epilepsy Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome Clinical review of genetic epileptic encephalopathies Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype Mapping pathological phenotypes in a mouse model of CDKL5 disorder Molecular and genetic insights into an infantile epileptic encephalopathy - CDKL5 disorder.Searching for biomarkers of CDKL5 disorder: early-onset visual impairment in CDKL5 mutant mice.Epilepsy genetics--past, present, and future Loss of CDKL5 impairs survival and dendritic growth of newborn neurons by altering AKT/GSK-3β signaling.Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.There is variability in the attainment of developmental milestones in the CDKL5 disorder.Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.First case report of Rett syndrome in the Azeri Turkish population and brief review of the literature Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.Autism spectrum disorder and epilepsy: Disorders with a shared biology.Cytokine Dysregulation in MECP2- and CDKL5-Related Rett Syndrome: Relationships with Aberrant Redox Homeostasis, Inflammation, and ω-3 PUFAs Adult Phenotypes in Angelman- and Rett-Like Syndromes.CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.Characterisation of CDKL5 Transcript Isoforms in Human and Mouse Neurobehavioral phenotype in cyclin-dependent kinase-like 5 syndrome: Case report and review of literature.Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice.Genotyping FOXG1 Mutations in Patients with Clinical Evidence of the FOXG1 Syndrome.Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy CDKL5 and ARX mutations in males with early-onset epilepsy.West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1 Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.Mutations in the C-terminus of CDKL5: proceed with caution.Genetic and biologic classification of infantile spasms.The role of oxidative stress in Rett syndrome: an overview.Epileptic encephalopathies (including severe epilepsy syndromes).Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.Genetics, molecular biology, and phenotypes of x-linked epilepsy.Genetic disorders associated with postnatal microcephaly.

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Key clinical features to identify girls with CDKL5 mutations

http://www.wikidata.org/entity/Q28293847

description

2008 nî lūn-bûn

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2008 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2008 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2008年の論文

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年學術文章

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name

Key clinical features to identify girls with CDKL5 mutations

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Key clinical features to identify girls with CDKL5 mutations

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Key clinical features to identify girls with CDKL5 mutations

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Key clinical features to identify girls with CDKL5 mutations

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Key clinical features to identify girls with CDKL5 mutations

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Key clinical features to identify girls with CDKL5 mutations

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Key clinical features to identify girls with CDKL5 mutations

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Key clinical features to identify girls with CDKL5 mutations

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Key clinical features to identify girls with CDKL5 mutations

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Key clinical features to identify girls with CDKL5 mutations

@en

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Alexandra Afenjar

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Alexis Arzimanoglou

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Benoit Girard

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Christophe Philippe

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Claude Cances

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Delphine Héron

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Dorothée Ville

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Haydeé Rosas-Vargas

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Juliette Nectoux

http://www.w3.org/2001/XMLSchema#string

Marie Ange N'guyen Morel

http://www.w3.org/2001/XMLSchema#string

P2860

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

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

The three stages of epilepsy in patients with CDKL5 mutations

Seizures and electroencephalographic findings in CDKL5 mutations: case report and review

A perfect message: RNA surveillance and nonsense-mediated decay

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

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

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2647-61

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scholarly article

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704112

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10.1093/BRAIN/AWN197

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Pt 10

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131

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Nathalie Boddaert

Nadia Bahi-Buisson

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2008-10-01T00:00:00Z

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23256743

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18790821

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