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.

中文翻译：

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HECW2变异与发育性和癫痫性脑病和斑马鱼hecw2a的敲除的关联

发育性和癫痫性脑病（DEE）是婴儿和幼儿期的严重脑病。在这项研究中，我们报道了复发性从头变体（c.3985C> T，p.R1330W）在HECW2通过筛选240名患者DEE和鉴定（含有E3泛素蛋白连接酶2 HECT，C2和WW结构域）（MIM＃617245）总结了已发表的具有HECW2变异的DEE患者的临床特征。在功能上，斑马鱼hecw2a的转录敲低导致脑组织的早期形态异常。这些结果表明，HECW2功能障碍与大脑发育之间存在潜在的功能联系。