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Article

Mutations in the C-terminus of CDKL5: proceed with caution.

European journal of human genetics : EJHG - 1 Feb 2014

Diebold Bertrand, Delépine Chloé, Gataullina Svetlana, Delahaye Andrée, Nectoux Juliette, Bienvenu Thierry

Abstract excerpt

Mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene have been described in girls with Rett-like features and early-onset epileptic encephalopathy including infantile spasms. Milder phenotypes have been associated with sequence variations in the 3'-end of the CDKL5 gene. Identification of novel CDKL5 transcripts coding isoforms characterized by an altered C-terminal region strongly questions the eventual...

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Source

Open in PubMed Open full text

Identifiers

PMID: 23756444
DOI: 10.1038/ejhg.2013.133
PMCID: PMC3895649

Genes

CDKL5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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