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Article

FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome.

Clinical genetics - 1 Dec 2012

Takahashi S, Matsumoto N, Okayama A, Suzuki N, Araki A, Okajima K, Tanaka H, Miyamoto A

Abstract excerpt

Rett syndrome (RTT) is a severe neurodevelopmental disorder characterized by microcephaly, psychomotor regression, seizures and stereotypical hand movements. Recently, deletions and inactivating mutations in FOXG1, encoding a brain-specific transcription factor that is critical for forebrain development, have been found to be associated with the congenital variant of RTT. Here we report the clinical features and...

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Source

Identifiers

PMID: 22129046
DOI: 10.1111/j.1399-0004.2011.01819.x

Genes

FOXG1
CDKL5
MECP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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