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Article

Early onset seizures and Rett-like features associated with mutations in CDKL5.

European journal of human genetics : EJHG - 1 Oct 2005

Evans Julie C, Archer Hayley L, Colley James P, Ravn Kirstine, Nielsen Jytte Bieber, Kerr Alison, Williams Elizabeth, Christodoulou John, Gécz Jozef, Jardine Philip E, Wright Michael J, Pilz Daniela T, Lazarou Lazarus, Cooper David N, Sampson Julian R, Butler Rachel, Whatley Sharon D, Clarke Angus J

Abstract excerpt

Mutations in the CDKL5 gene (also known as STK9) have recently been shown to cause early onset epilepsy and severe mental retardation (ISSX or West syndrome). Patients with CDKL5 mutations sometimes also show features similar to those seen in Rett Syndrome (RTT). We have screened the CDKL5 gene i...

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Source

Identifiers

PMID: 16015284
DOI: 10.1038/sj.ejhg.5201451

Genes

CDKL5
ARX
MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16015284-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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