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Article

Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene.

Developmental medicine and child neurology - 1 May 2013

Hagebeuk Eveline E O, van den Bossche Renilde A S, de Weerd Al W

Abstract excerpt

AIM: In female children with drug-resistant seizures and developmental delay from birth, atypical Rett syndrome caused by mutations in the CDKL5 gene should be considered. Several clinical features resemble classic Rett syndrome. Respiratory and sleep abnormalities are frequently present in Rett syndrome, whereas little is known in patients with CDKL5 mutations. METHOD: In four genetically confirmed female...

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Source

Identifiers

PMID: 23151060
DOI: 10.1111/j.1469-8749.2012.04432.x

Genes

CDKL5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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