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Article

Key clinical features to identify girls with CDKL5 mutations.

Brain : a journal of neurology - 1 Oct 2008

Bahi-Buisson Nadia, Nectoux Juliette, Rosas-Vargas Haydeé, Milh Mathieu, Boddaert Nathalie, Girard Benoit, Cances Claude, Ville Dorothée, Afenjar Alexandra, Rio Marlène, Héron Delphine, N'guyen Morel Marie Ange, Arzimanoglou Alexis, Philippe Christophe, Jonveaux Philippe, Chelly Jamel, Bienvenu Thierry

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 (RTT)-like phenotype. To date, less than 25 different mutations have been reported. So far, there are still little data on the key clinical diagnosis criteria and on the natural history of CDKL5-associated encephalopathy. We screened the entire coding region of CDKL5 for...

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Source

Identifiers

PMID: 18790821
DOI: 10.1093/brain/awn197

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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