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

Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males.

American journal of medical genetics. Part A - 1 Aug 2010

Masliah-Plachon Julien, Auvin Stéphane, Nectoux Juliette, Fichou Yann, Chelly Jamel, Bienvenu Thierry

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Brain Diseases
Share to Electroencephalography
Share to CDKL5 gene
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mosaicism

Share to Mutation

Share to Protein Serine-Threonine Kinases

Share to Spasms, Infantile

Source

Identifiers

PMID: 20602487
DOI: 10.1002/ajmg.a.33037

Genes

CDKL5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males.PMID 20602487Read ↗

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two femalesSemantic proximity Read ↗

CDKL5 deficiency disorder: At the intersection between Rett syndrome and developmental epileptic encephalopathies.Semantic proximity Read ↗

Novel mutations in the CDKL5 gene in complex genotypes associated with West syndrome with variable phenotype: First description of somatic mosaic state.Semantic proximity Read ↗

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

Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencing.Semantic proximity Read ↗

Clinical and functional study of two de novo variations of CDKL5 gene.Semantic proximity Read ↗

Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients.Semantic proximity Read ↗

Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.Semantic proximity Read ↗

CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype.Semantic proximity Read ↗

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

Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy.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 ↗

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