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Article

Rett-like features and cortical visual impairment in a Japanese patient with HECW2 mutation.

Brain & development - 1 May 2018

Nakamura Haruhiko, Uematsu Mitsugu, Numata-Uematsu Yurika, Abe Yu, Endo Wakaba, Kikuchi Atsuo, Takezawa Yusuke, Funayama Ryo, Shirota Matsuyuki, Nakayama Keiko, Niihori Tetsuya, Aoki Yoko, Haginoya Kazuhiro, Kure Shigeo

Abstract excerpt

Numerous genetic syndromes that include intellectual disability (ID) have been reported. Recently, HECW2 mutations were detected in patients with ID and growth development disorders. Four de novo missense mutations have been reported. Here, we report a Japanese girl with Rett-like symptoms of severe ID, hypotonia, refractory epilepsy, and stereotypical hand movement (hand tapping, flapping, and wringing) after...

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Source

Identifiers

PMID: 29395664
DOI: 10.1016/j.braindev.2017.12.015

Genes

HECW2
CDKL5
FOXG1
MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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