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Article

Association of HECW2 variants with developmental and epileptic encephalopathy and knockdown of zebrafish hecw2a.

American journal of medical genetics. Part A - 1 Feb 2021

Lu Qian, Zhang Meng-Na, Shi Xiu-Yu, Zhang Ling-Qiang, Wang Yang-Yang, Liu Li-Ying, He Wen, Chen Hui-Min, He Bing, Zou Li-Ping

Abstract excerpt

Developmental and epileptic encephalopathy (DEE) is a severe encephalopathy in infants and early childhood. In this study we reported a recurrent de novo variant (c.3985C>T, p.R1330W) in HECW2 (HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2) (MIM# 617245) identified by screening 240 patients with DEE and summarized clinical features of published DEE patients with HECW2 variants. Functionally,...

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PMID: 33205896
DOI: 10.1002/ajmg.a.61958

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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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