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Article

Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.

Journal of medical genetics - 1 Mar 2008

Rosas-Vargas H, Bahi-Buisson N, Philippe C, Nectoux J, Girard B, N'Guyen Morel M A, Gitiaux C, Lazaro L, Odent S, Jonveaux P, Chelly J, Bienvenu T

Abstract excerpt

Mutations in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been shown to cause infantile spasms as well as Rett syndrome-like phenotype. To date, fewer than 20 different mutations have been reported. So far, no clear genotype-phenotype correlation has been established. We sc...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17993579
DOI: 10.1136/jmg.2007.053504

Genes

CDKL5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17993579-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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