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Article

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

American journal of medical genetics. Part A - 15 Feb 2009

Sprovieri T, Conforti F L, Fiumara A, Mazzei R, Ungaro C, Citrigno L, Muglia M, Arena A, Quattrone A

Abstract excerpt

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have recently been reported in patients with severe neurodevelopmental disorder characterized by early-onset seizures, infantile spasms, severe psychomotor impairment and very recently, in patients with Rett syndrome (RTT)-like...

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Share to Age of Onset
Share to Chromosomes, Human, X
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Methyl-CpG-Binding Protein 2

Share to Mutation, Missense

Share to Protein Serine-Threonine Kinases

Share to Rett Syndrome

Source

Identifiers

PMID: 19253388
DOI: 10.1002/ajmg.a.32711

Genes

CDKL5
MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19253388-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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