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Article

A CDKL5 mutated child with precocious puberty.

American journal of medical genetics. Part A - 1 May 2009

Saletti Veronica, Canafoglia Laura, Cambiaso Paola, Russo Silvia, Marchi Margherita, Riva Daria

Abstract excerpt

To date, 43 patients have been described with mutations in or involving the CDKL5 gene. The typical phenotype includes early-onset, often intractable epileptic seizures and severe mental retardation with very limited progress in psychomotor development. Most patients also show impaired social interaction with avoidance of eye-to-eye contact, and some clinical features reminiscent of Rett syndrome (RTT), including...

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Source

Identifiers

PMID: 19396824
DOI: 10.1002/ajmg.a.32806

Genes

CDKL5

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.

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