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

CDKL5-Related Disorders: From Clinical Description to Molecular Genetics

1 Jan 2011

Abstract excerpt

Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) have been described in girls with Rett-like features and early-onset epileptic encephalopathy including infantile spasms. To date, with more than 80 reported cases, the phenotype of CDKL5-related encephalopathy is better defined. The main features consist of early-onset seizures starting before 5 months of age, severe mental retardation with absent...

Read the complete abstract on PubMed

Topics

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

Share to Genetics and Neurodevelopmental Disorders
Share to Genomic variations and chromosomal abnormalities
Share to Lung Cancer Research Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 22670135
DOI: 10.1159/000331333

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

CDKL5-Related Disorders: From Clinical Description to Molecular GeneticsPMID 22670135Read ↗

What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy.Semantic proximity Read ↗

CDKL5 deficiency disorder in males: Five new variants and review of the literature.Semantic proximity Read ↗

A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant 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 ↗

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

Epilepsy caused by CDKL5 mutations.Semantic proximity Read ↗

CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature.Semantic proximity Read ↗

Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?Semantic proximity Read ↗

First report of Tunisian patients with CDKL5-related encephalopathy.Semantic proximity Read ↗

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

Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients.Semantic proximity Read ↗

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