GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Platzer1, Yuan2, Schutz3 et al. 2017J Med GenetSelf Cite243182640Get access via publisherAdd to dashboardCite Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task. Show abstract Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task. show abstract“…9 Less frequent findings of GRIN2B encephalopathy include generalised cerebral volume loss, CVI, hyperkinetic movement disorders (dystonia, dyskinesia, chorea) and developmental regression. These features have been repeatedly observed in other GRIN-associated encephalopathies, 451012192627 suggesting a shared phenotypic spectrum, with differences likely reflecting variant class, location and effect in the various NMDAR subunits. However, we did not observe EEG patterns of continuous spikes and waves during sleep or centrotemporal spikes in our GRIN2B cohort, which appears to reflect a milder end of the GRIN spectrum that is so far predominantly associated with GRIN2A . …”Section: Discussionmentioningconfidence: 52%“…[3][4][5][6][7][8][9][10][11][12][13] To delineate the phenotypic spectrum of GRIN2B encephalopathy, we reviewed previously published and newly diagnosed patients with pathogenic/likely pathogenic de novo variants in GRIN2B. We evaluated the functional consequences of 16 variants in Xenopus laevis oocytes, investigated in vitro responses to memantine for six potential gain-of-function variants and aimed for translation of these results into personalised therapeutic approaches. …”Section: Introductionmentioningconfidence: 99%

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Platzer1, Yuan2, Schutz3 et al. 2017J Med GenetSelf Cite243182640Get access via publisherAdd to dashboardCite Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task. Show abstract Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task. show abstract“…Mutation V667I in GluN2D changes EC50 for glycine and glutamate by factors of 1. 7 and 1. 5, respectively. This mutation was found in patients with epileptic encephalopathy and global developmental delay46. Mutations G815R and F817L in GluN1 change EC50 for glutamate by factors of 4. 4 and 4. 2, respectively (data for glycine not reported). …”Section: Discussionmentioningconfidence: 99%

Computationally Discovered Potentiating Role of Glycans on NMDA Receptors

Sinitskiy1, Stanley2, Hackos3 et al. 2017Sci Rep281521Get access via publisherAdd to dashboardCite Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task. Show abstract Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task. show abstract“…For example, several GRIN2A mutations have been associated with increased NMDAR-mediated charge transfer, which could increase neuronal excitability and potentially promote neuronal death. 7–13,17,19 The phenotypes associated with this hyperexcitability include disorders along the epilepsy-aphasia spectrum, as well as other epileptic encephalopathies associated with severe neurodevelopmental delays. 5,11,12 To date, many of these pathologic syndromes have been associated with GluN2A or GluN2B. …”Section: Introductionmentioningconfidence: 99%

"VSports手机版" GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function

Chen1, Shieh2, Swanger3 et al. 2017J Hum GenetSelf Cite792591Get access via publisherAdd to dashboardCite Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task. Show abstract Exaggerated anticipatory anxiety is common in social anxiety disorder (SAD). Neuroimaging studies have revealed altered neural activity in response to social stimuli in SAD, but fewer studies have examined neural activity during anticipation of feared social stimuli in SAD. The current study examined the time course and magnitude of activity in threat processing brain regions during speech anticipation in socially anxious individuals and healthy controls (HC). Method Participants (SAD n = 58; HC n = 16) underwent functional magnetic resonance imaging (fMRI) during which they completed a 90s control anticipation task and 90s speech anticipation task. show abstractScite is an AI-powered research tool that helps researchers better discover and evaluate scientific literature through Smart Citations—a revolutionary system that shows whether articles support, contrast, or simply mention a given claim VSports app下载. Founded in 2018, and now part of Research Solutions, Scite has indexed over 1. 4 billion citations and partnered with more than 30 major publishers to provide researchers with unparalleled access to scientific literature. With its Scite Assistant, Smart Citation Index, and advanced search capabilities, the platform addresses critical challenges such as information overload and research reproducibility. Trusted by two million active users worldwide, Scite is reshaping how researchers interact with scholarly content—building ethical, transparent AI tools that support rigorous, copyright-compliant research.