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Article

Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl.

American journal of medical genetics. Part A - 1 Mar 2012

Tsuburaya Rie, Uematsu Mitsugu, Kikuchi Atsuo, Hino-Fukuyo Naomi, Kunishima Shinji, Kato Mitsuhiro, Haginoya Kazuhiro, Tsuchiya Shigeru

Abstract excerpt

Periventricular heterotopia (PH), clumps of neurons mislocated beside the ventricle, is caused by failure to initiate migration during embryogenesis. We report on a 32-month-old Japanese girl with a unique subtype of PH, namely ribbon-like PH. The patient presented with severe psychomotor developmental delay, intractable epilepsy, and congenital cataracts and developed West syndrome phenotype. Brain magnetic...

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PMID: 22315185
DOI: 10.1002/ajmg.a.34258

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ARX
DCX
FLNA

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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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