29 research outputs found
Relating language examinations to the common European framework of reference for languages: learning, teaching, assessment (CEFR): a manual
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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
Get PDFAbstractDevelopmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an allelic series of germline recessive mutations in UGDH in 36 cases from 25 families presenting with epileptic encephalopathy with developmental delay and hypotonia. UGDH encodes an oxidoreductase that converts UDP-glucose to UDP-glucuronic acid, a key component of specific proteoglycans and glycolipids. Consistent with being loss-of-function alleles, we show using patients’ primary fibroblasts and biochemical assays, that these mutations either impair UGDH stability, oligomerization, or enzymatic activity. In vitro, patient-derived cerebral organoids are smaller with a reduced number of proliferating neuronal progenitors while mutant ugdh zebrafish do not phenocopy the human disease. Our study defines UGDH as a key player for the production of extracellular matrix components that are essential for human brain development. Based on the incidence of variants observed, UGDH mutations are likely to be a frequent cause of recessive epileptic encephalopathy.</jats:p
NeuroBench: Advancing Neuromorphic Computing through Collaborative, Fair and Representative Benchmarking
Full text linkThe field of neuromorphic computing holds great promise in terms of advancing
computing efficiency and capabilities by following brain-inspired principles.
However, the rich diversity of techniques employed in neuromorphic research has
resulted in a lack of clear standards for benchmarking, hindering effective
evaluation of the advantages and strengths of neuromorphic methods compared to
traditional deep-learning-based methods. This paper presents a collaborative
effort, bringing together members from academia and the industry, to define
benchmarks for neuromorphic computing: NeuroBench. The goals of NeuroBench are
to be a collaborative, fair, and representative benchmark suite developed by
the community, for the community. In this paper, we discuss the challenges
associated with benchmarking neuromorphic solutions, and outline the key
features of NeuroBench. We believe that NeuroBench will be a significant step
towards defining standards that can unify the goals of neuromorphic computing
and drive its technological progress. Please visit neurobench.ai for the latest
updates on the benchmark tasks and metrics
NeuroBench:Advancing Neuromorphic Computing through Collaborative, Fair and Representative Benchmarking
Get PDFThe field of neuromorphic computing holds great promise in terms of advancing computing efficiency and capabilities by following brain-inspired principles. However, the rich diversity of techniques employed in neuromorphic research has resulted in a lack of clear standards for benchmarking, hindering effective evaluation of the advantages and strengths of neuromorphic methods compared to traditional deep-learning-based methods. This paper presents a collaborative effort, bringing together members from academia and the industry, to define benchmarks for neuromorphic computing: NeuroBench. The goals of NeuroBench are to be a collaborative, fair, and representative benchmark suite developed by the community, for the community. In this paper, we discuss the challenges associated with benchmarking neuromorphic solutions, and outline the key features of NeuroBench. We believe that NeuroBench will be a significant step towards defining standards that can unify the goals of neuromorphic computing and drive its technological progress. Please visit neurobench.ai for the latest updates on the benchmark tasks and metrics
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
Get PDFDevelopmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an allelic series of germline recessive mutations in UGDH in 36 cases from 25 families presenting with epileptic encephalopathy with developmental delay and hypotonia. UGDH encodes an oxidoreductase that converts UDP-glucose to UDP-glucuronic acid, a key component of specific proteoglycans and glycolipids. Consistent with being loss-of-function alleles, we show using patients’ primary fibroblasts and biochemical assays, that these mutations either impair UGDH stability, oligomerization, or enzymatic activity. In vitro, patient-derived cerebral organoids are smaller with a reduced number of proliferating neuronal progenitors while mutant ugdh zebrafish do not phenocopy the human disease. Our study defines UGDH as a key player for the production of extracellular matrix components that are essential for human brain development. Based on the incidence of variants observed, UGDH mutations are likely to be a frequent cause of recessive epileptic encephalopathy
