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15 results found
    1. Neuroscience
    2. Stem Cells and Regenerative Medicine

    Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy

    Dina Simkin et al.
    An inducedpluripotent stem cell (iPSC)-based model of KCNQ2-associated developmental epileptic encephalopathy suggests that disease is driven by dyshomeostaic neuronal mechanisms that are downstream of loss of M-current.
    1. Neuroscience

    Seizures are a druggable mechanistic link between TBI and subsequent tauopathy

    Hadeel Alyenbaawi et al.
    A traumatic brain injury model is invented for larval zebrafish and applied to a new fluorescent 'tauopathy reporter fish', revealing a role for seizures in progression towards dementias.
    1. Neuroscience

    Homeostatic plasticity fails at the intersection of autism-gene mutations and a novel class of common genetic modifiers

    Özgür Genç et al.
    Forward genetic screens define a novel genetic landscape by which diverse, unrelated autism risk genes may converge to commonly affect the robustness of synaptic transmission.
    1. Neuroscience

    Gain of channel function and modified gating properties in TRPM3 mutants causing intellectual disability and epilepsy

    Evelien Van Hoeymissen et al.
    Two mutations in TRPM3 resulting in developmental and epileptic encephalopathies result in a gain-of-channel function, which may lie at the basis of epileptic activity and neurodevelopmental symptoms in the patients.
    1. Neuroscience

    Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy

    Wu Chen et al.
    Two genetically distinct Stxbp1 haploinsufficiency mouse models exhibit seizures and impairments in cognitive, psychiatric, and motor functions, representing robust preclinical models of STXBP1 encephalopathy with both construct and face validity.
    1. Structural Biology and Molecular Biophysics

    The HCN domain couples voltage gating and cAMP response in hyperpolarization-activated cyclic nucleotide-gated channels

    Alessandro Porro et al.
    Experimental and computational approaches reveal how ligand binding is coupled to voltage sensing in a HCN channels.
    1. Neuroscience

    Defined neuronal populations drive fatal phenotype in a mouse model of Leigh syndrome

    Irene Bolea et al.
    Glutamatergic brainstem neurons drive motor and respiratory deficits, and GABAergic basal ganglia neurons cause hypothermia and fatal epileptic events, in a model of mitochondrial disease.
    1. Neuroscience

    Network-wide abnormalities explain memory variability in hippocampal amnesia

    Georgios PD Argyropoulos et al.
    Hippocampal damage is associated with changes across the extended hippocampal system, and these may explain variability in memory between patients presenting with hippocampal amnesia.
    1. Neuroscience

    Re-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior

    Thomas K Creson et al.
    Severe neurodevelopmental disorder risk gene functions are retained into adulthood and they contribute to disease phenotypes, indicating that these patients may respond to treatments throughout life.
    1. Neuroscience

    Deletion of KCNQ2/3 potassium channels from PV+ interneurons leads to homeostatic potentiation of excitatory transmission

    Heun Soh et al.
    Loss of potassium channel activity from fast-spiking interneurons increases their excitability leading to unexpectedly increased fast excitatory transmission and seizure susceptibility.

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