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Article

A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.

Neuroreport - 25 Mar 2015

Romaniello Romina, Saettini Francesco, Panzeri Elena, Arrigoni Filippo, Bassi Maria T, Borgatti Renato

Abstract excerpt

This study reports on a 9-year-old girl who developed West syndrome and showed clinical features fulfilling the main revised diagnostic criteria for typical Rett syndrome (hand washing, severe cognitive impairment with absence of language, ataxic gait, progressive scoliosis and autistic features). Mutation analyses for methyl-CpG-binding protein 2 (MECP2), cyclin-dependent kinase-like 5 (CDKL5/STK9), ARX and...

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Source

Identifiers

PMID: 25714420
DOI: 10.1097/WNR.0000000000000337

Genes

STXBP1
MECP2
ARX
CDKL5
FOXG1

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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