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Article

Clinical phenotype of 5 females with a CDKL5 mutation.

Journal of child neurology - 1 Jan 2012

Stalpers Xenia L, Spruijt Liesbeth, Yntema Helger G, Verrips Aad

Abstract excerpt

Mutations in the X-linked cyclin dependent kinase like 5 (CDKL5) gene have been reported in approximately 80 patients since the first description in 2003. The clinical presentation partly corresponds with Rett syndrome, considering clinical features as intellectual disability, hypotonia, and poor visual, language, and motor development. However, these patients do not meet the consensus criteria for Rett syndrome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21765152
DOI: 10.1177/0883073811413832

Genes

CDKL5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.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 ↗

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