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http://dx.doi.org/10.1038/nrneurol.2012.256 | DOI Listing |
Epilepsy Curr
June 2024
Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, USA.
Achieving equitable health in epilepsy requires addressing systemic barriers and social determinants of health to ensure that every person with epilepsy has the opportunity to attain their highest level of health. We review the literature on disparities that affect several minoritized groups living with epilepsy. Early solutions with the potential for modeling towards replication for low socioeconomic status population, non-English language preference communities, sexual and gender minorities, and rural and underserved communities with high social determinants of health burden are shared as examples to catalyze stakeholder investment in identifying and addressing health disparities across the spectrum of epilepsy at both the provider and health systems level.
View Article and Find Full Text PDFAngew Chem Int Ed Engl
June 2024
Department of Chemistry, State Key Laboratory of Molecular Engineering of Polymers and iChem, Shanghai Key Laboratory of Molecular Catalysis and Innovative Materials, Fudan University, Shanghai, 200433, China.
Fluorescence sensing is crucial to studying biological processes and diagnosing diseases, especially in the second near-infrared (NIR-II) window with reduced background signals. However, it's still a great challenge to construct "off-on" sensors when the sensing wavelength extends into the NIR-II region to obtain higher imaging contrast, mainly due to the difficult synthesis of spectral overlapped quencher. Here, we present a new fluorescence quenching strategy, which utilizes steric hindrance quencher (SHQ) to tune the molecular packing state of fluorophores and suppress the emission signal.
View Article and Find Full Text PDFElife
January 2024
Department of Psychology, University of California, Los Angeles, Los Angeles, United States.
Consciousness is thought to be regulated by bidirectional information transfer between the cortex and thalamus, but the nature of this bidirectional communication - and its possible disruption in unconsciousness - remains poorly understood. Here, we present two main findings elucidating mechanisms of corticothalamic information transfer during conscious states. First, we identify a highly preserved spectral channel of cortical-thalamic communication that is present during conscious states, but which is diminished during the loss of consciousness and enhanced during psychedelic states.
View Article and Find Full Text PDFEpilepsia
April 2024
Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center Filadelfia, member of the European Reference Network EpiCARE, Dianalund, Denmark.
Objective: The postsynaptic density protein of excitatory neurons PSD-95 is encoded by discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants of which lead to DLG4-related synaptopathy. The major clinical features are developmental delay, intellectual disability (ID), hypotonia, sleep disturbances, movement disorders, and epilepsy. Even though epilepsy is present in 50% of the individuals, it has not been investigated in detail.
View Article and Find Full Text PDFClin Genet
January 2024
Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
The rare autosomal dominant brain disorder DLG4-related synaptopathy is caused by de novo variants in DLG4 (encoding PSD-95), the majority of which are predicted to be protein-truncating. In addition to splice site variants, a number of synonymous and missense DLG4 variants are predicted to exert their effect through altered RNA splicing, although the pathogenicity of these variants is uncertain without functional RNA studies. Here, we describe a young boy with a deep intronic DLG4 variant (c.
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