Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Two Siblings With a CDKL5 Mutation: Genotype and Phenotype Evaluation.

Journal of child neurology - 1 Oct 2015

Hagebeuk Eveline E O, Marcelis Carlo L, Alders Mariëlle, Kaspers Ageeth, de Weerd Al W

Abstract excerpt

This is the second report of a family with a recurrence of a CDKL5 mutation (c. 283-3_290del) in 2 sisters. Both parents tested negative for the mutation in all tissues, but germline mosaicism is likely. Clinically CDKL5 patients resemble those with Rett syndrome, caused by a MECP2 mutation, who experience a regression, after an initial normal development. Even though both siblings showed a typical CDKL5...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brain
Share to Child, Preschool
Share to Electroencephalography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Protein Serine-Threonine Kinases

Share to Seizures

Share to Siblings

Share to X-Linked Intellectual Disability

Source

Identifiers

PMID: 25762588
DOI: 10.1177/0883073815573317

Genes

CDKL5
MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two Siblings With a CDKL5 Mutation: Genotype and Phenotype Evaluation.PMID 25762588Read ↗

Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.Semantic proximity Read ↗

Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome.Semantic proximity Read ↗

Clinical phenotype of 5 females with a CDKL5 mutation.Semantic proximity Read ↗

A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.Semantic proximity Read ↗

CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.Semantic proximity Read ↗

Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.Semantic proximity Read ↗

CDKL5-Related Disorders: From Clinical Description to Molecular GeneticsSemantic proximity Read ↗

A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder.Semantic proximity Read ↗

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.Semantic proximity Read ↗

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.Semantic proximity Read ↗

Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patientsSemantic proximity Read ↗

Mutations in the C-terminus of CDKL5: proceed with caution.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.