| Literature DB >> 33205896 |
Qian Lu1, Meng-Na Zhang1, Xiu-Yu Shi1, Ling-Qiang Zhang2, Yang-Yang Wang1, Li-Ying Liu1, Wen He1, Hui-Min Chen3, Bing He4, Li-Ping Zou1,3,5.
Abstract
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, transcriptional knockdown of zebrafish hecw2a led to early morphological abnormalities in the brain tissues. These results suggest a potential functional link between HECW2 dysfunction and brain development.Entities:
Keywords: HECW2; developmental encephalopathy; epilepsy; zebrafish model
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Year: 2020 PMID： 33205896 DOI： 10.1002/ajmg.a.61958
Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802