Publications by authors named "Y G Weber"
Nutrient-dependent mTORC1 regulation upon amino acid deprivation is mediated by the KICSTOR complex, comprising SZT2, KPTN, ITFG2, and KICS2, recruiting GATOR1 to lysosomes. Previously, pathogenic SZT2 and KPTN variants have been associated with autosomal recessive intellectual disability and epileptic encephalopathy. We identified bi-allelic KICS2 variants in eleven affected individuals presenting with intellectual disability and epilepsy.
View Article and Find Full Text PDFObjective: Resistance to antiseizure medications (ASMs) is a major challenge in the treatment of patients with epilepsy. Despite numerous newly marketed ASMs, the proportion of drug-resistant people with epilepsy has not significantly decreased over the years. Therefore, novel and innovative seizure models for preclinical drug screening are highly desirable.
View Article and Find Full Text PDFMalformations of the brain are common and vary in severity, from negligible to potentially fatal. Their causes have not been fully elucidated. Here, we report pathogenic variants in the core protein-folding machinery TRiC/CCT in individuals with brain malformations, intellectual disability, and seizures.
View Article and Find Full Text PDFArticle Synopsis
- Despite advancements in deep learning, its complex and opaque nature hinders widespread clinical adoption, prompting interest in concept-based interpretability, specifically using techniques like Testing with Concept Activation Vectors (TCAV).
- This study applies TCAV to abnormality detection in electroencephalography (EEG), utilizing the XceptionTime model on multi-channel physiological data to enhance interpretability and analyze concepts linked to EEG pathologies.
- The results indicate that TCAV scores align with clinical expectations, demonstrating its potential for improving interpretability in deep learning models and identifying biases in medical data.
Article Synopsis
- Pathogenic variants in the STXBP1 gene are linked to developmental and epileptic encephalopathy (DEE), often resulting in drug-resistant epilepsy and increased mortality risk, primarily from sudden unexpected death in epilepsy (SUDEP).
- A study analyzed data from 40 individuals with STXBP1 variants who died, revealing a mortality rate of 3.2% and median age of death at 13 years; the leading causes were SUDEP (36%) and respiratory complications (33%).
- Findings highlight the importance of understanding mortality risks in STXBP1-related disorders, aiding in prognostic evaluations, genetic counseling, and the development of preventative strategies for affected families.