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Article

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes.

Nature - 11 Nov 2010

Chao Hsiao-Tuan, Chen Hongmei, Samaco Rodney C, Xue Mingshan, Chahrour Maria, Yoo Jong, Neul Jeffrey L, Gong Shiaoching, Lu Hui-Chen, Heintz Nathaniel, Ekker Marc, Rubenstein John L R, Noebels Jeffrey L, Rosenmund Christian, Zoghbi Huda Y

Abstract excerpt

Mutations in the X-linked MECP2 gene, which encodes the transcriptional regulator methyl-CpG-binding protein 2 (MeCP2), cause Rett syndrome and several neurodevelopmental disorders including cognitive disorders, autism, juvenile-onset schizophrenia and encephalopathy with early lethality. Rett syndrome is characterized by apparently normal early development followed by regression, motor abnormalities, seizures...

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Identifiers

PMID: 21068835
DOI: 10.1038/nature09582
PMCID: PMC3057962

Genes

MECP2

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes.PMID 21068835Read ↗

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Autonomic dysfunction with mutations in the gene that encodes methyl-CpG-binding protein 2: insights into Rett syndrome.Semantic proximity Read ↗

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