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Article

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

European journal of human genetics : EJHG - 1 Mar 2013

Fehr Stephanie, Wilson Meredith, Downs Jenny, Williams Simon, Murgia Alessandra, Sartori Stefano, Vecchi Marilena, Ho Gladys, Polli Roberta, Psoni Stavroula, Bao Xinhua, de Klerk Nick, Leonard Helen, Christodoulou John

Abstract excerpt

The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres. This study uses a large international data collection to describe the clinical profile of the CDKL5 disorder and compare with Rett syndrome (RTT). Information on individuals with cyclin-dependent kinase-like 5 (CDKL5) mutations (n=86) and females with MECP2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22872100
DOI: 10.1038/ejhg.2012.156
PMCID: PMC3573195

Genes

CDKL5
MECP2

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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