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Article

A novel CDKL5 mutation in a Japanese patient with atypical Rett syndrome.

Clinica chimica acta; international journal of clinical chemistry - 1 Aug 2016

Christianto Antonius, Katayama Syouichi, Kameshita Isamu, Inazu Tetsuya

Abstract excerpt

Rett syndrome (RTT) is a severe X-linked dominant inheritance disorder with a wide spectrum of clinical manifestations. Mutations in Methyl CpG binding protein 2 (MECP2), Cyclin dependent kinase-like 5 (CDKL5) and Forkhead box G1 (FOXG1) have been associated with classic and/or variant RTT. This study was conducted to identify the responsible gene(s) in atypical RTT patient, and to examine the effect of the...

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Source

Identifiers

PMID: 27265524
DOI: 10.1016/j.cca.2016.06.003

Genes

CDKL5
FOXG1
MECP2

Variants

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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