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Article

Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome).

American journal of medical genetics. Part A - 1 Jan 2022

Hetzelt Katalin L M L, Winterholler Martin, Kerling Frank, Rauch Christophe, Ekici Arif B, Winterpacht Andreas, Vasileiou Georgia, Uebe Steffen, Thiel Christian T, Kraus Cornelia, Reis André, Zweier Christiane

Abstract excerpt

Cohen-Gibson syndrome is a rare genetic disorder, characterized by fetal or early childhood overgrowth and mild to severe intellectual disability. It is caused by heterozygous aberrations in EED, which encodes an evolutionary conserved polycomb group (PcG) protein that forms the polycomb repressive complex-2 (PRC2) together with EZH2, SUZ12, and RBBP7/4. In total, 11 affected individuals with heterozygous...

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Identifiers

PMID: 34533271
DOI: 10.1002/ajmg.a.62496

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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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Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome).PMID 34533271Read ↗

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