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

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

Clinical genetics - 1 Jul 2006

Nectoux J, Heron D, Tallot M, Chelly J, Bienvenu T

Abstract excerpt

The CDKL5 gene has been implicated in infantile spasms and more recently in a Rett syndrome-like phenotype. We report a case of a young girl presenting generalized convulsions at 10 days of life. Subsequent mutation analysis by denaturing high-performance liquid chromatography of MECP2 and CDKL5 genes revealed heterozygosity for a c.47_48insAGG insertion in exon 1 of MECP2 and heterozygosity for a new nonsense...

Read the complete abstract on PubMed

Topics

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

Share to Codon, Nonsense
Share to DNA, Complementary
Share to Germ-Line Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Protein Serine-Threonine Kinases

Share to Rett Syndrome

Share to RNA Stability

Share to Seizures

Share to X Chromosome Inactivation

Source

Identifiers

PMID: 16813600
DOI: 10.1111/j.1399-0004.2006.00629.x

Genes

CDKL5
MECP2

Variants

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

Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome.PMID 16813600Read ↗

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

Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.Semantic proximity Read ↗

Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.Semantic proximity Read ↗

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasmsSemantic proximity Read ↗

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

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

Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome.Semantic proximity Read ↗

Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy.Semantic proximity Read ↗

Key clinical features to identify girls with CDKL5 mutations.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 ↗

Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.Semantic proximity Read ↗

A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.Semantic proximity Read ↗

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