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Article

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

American journal of human genetics - 1 Dec 2004

Weaving Linda S, Christodoulou John, Williamson Sarah L, Friend Kathie L, McKenzie Olivia L D, Archer Hayley, Evans Julie, Clarke Angus, Pelka Gregory J, Tam Patrick P L, Watson Catherine, Lahooti Hooshang, Ellaway Carolyn J, Bennetts Bruce, Leonard Helen, Gécz Jozef

Abstract excerpt

Rett syndrome (RTT) is a severe neurodevelopmental disorder caused, in most classic cases, by mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2). A large degree of phenotypic variation has been observed in patients with RTT, both those with and without MECP2 mutations. We describe a family consisting of a proband with a phenotype that showed considerable overlap with that of RTT, her identical...

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Topics

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Share to Chromosomal Proteins, Non-Histone
Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dosage Compensation, Genetic

Share to Fluorescence

Share to Heredodegenerative Disorders, Nervous System

Share to In Situ Hybridization

Share to Methyl-CpG-Binding Protein 2

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Source

Open in PubMed Open full text

Identifiers

PMID: 15492925
DOI: 10.1086/426462
PMCID: PMC1182143

Genes

CDKL5
MECP2
ARX

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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Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.PMID 15492925Read ↗

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