The ubiquitin pathway regulates the function of many proteins and controls cellular protein
homeostasis. In recent years, it has attracted great interest in neurodevelopmental and …

Background Variants in HECW2 have recently been reported to cause a
neurodevelopmental disorder with hypotonia, seizures and impaired language; however …

Clinical research indicates that SARS-CoV-2 infection is linked to several neurological
consequences, and the virus is still spreading despite the availability of vaccinations and …

The human brain has evolved to have extraordinary capabilities, enabling complex
behaviors. The uniqueness of the human brain is increasingly posited to be due in part to …

Abstract The HECT, C2, and WW domain containing E3 ubiquitin protein ligase 2 gene
(HECW2) is involved in protein ubiquitination. Several genes associated with protein …

Autism spectrum disorders (ASD) represent a phenotypically heterogeneous group of
patients that strongly intertwine with other neurodevelopmental disorders (NDDs), with …

Ubiquitination is a prevalent post-translational modification that plays a crucial role in a wide
range of pathophysiological processes, including cell proliferation, apoptosis, autophagy …

Aims Recent studies have revealed that the interplay between polygenic risk scores (PRS)
and large copy number variants (CNV;> 500kb) is essential for the etiology of schizophrenia …

Objective. We aimed to identify new candidate pathogenic genes for atypical Rolandic
epilepsy. Methods. We retrospectively evaluated the data from 24 Chinese patients with …

Pathogenic variants in HECW2 are extremely rare. So far, only 19 cases have been
reported. They were associated with epilepsy, intellectual disability, absent language …