141 results found
    1. Human Biology and Medicine
    2. Neuroscience

    A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability

    Poh Hui Chia et al.
    A biallelic missense mutation in the highly conserved, neuron-specific kinase CAMK2A abrogates holoenzyme assembly and causes a new inherited neurodevelopmental disease.
    1. Neuroscience

    Forniceal deep brain stimulation induces gene expression and splicing changes that promote neurogenesis and plasticity

    Amy E Pohodich et al.
    Forniceal deep brain stimulation is a promising treatment for several neuropsychiatric disorders as it upregulates synaptic and neurogenesis-associated genes, normalizes genes misregulated in Rett syndrome mice, and regulates genes altered in intellectual disability and major depression.
    1. Cell Biology
    2. Developmental Biology

    miR-128 regulates neuronal migration, outgrowth and intrinsic excitability via the intellectual disability gene Phf6

    Eleonora Franzoni et al.
    The regulation of Phf6 by miR-128 is a developmental timing mechanism that influences cortical lamination, neuronal morphology and intrinsic excitability.
    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

    The intellectual disability gene Kirrel3 regulates target-specific mossy fiber synapse development in the hippocampus

    E Anne Martin et al.
    Loss of Kirrel3 selectively reduces DG-GABA mossy fiber filopodia and causes CA3 neuron hyper-activity during brain development.
    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. Neuroscience

    NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

    Vincenzo A Gennarino et al.
    Individuals with deletions or duplications of the NUDT21 gene have altered levels of MeCP2 protein and intellectual disabilities.
    1. Genetics and Genomics

    Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

    Bianca Hartmann et al.
    Mutations affecting a nuclear encoded metalloprotease cause of a new form of mitochondriopathy, highlighting the importance of this protease for mitochondrial function in humans.
    1. Genetics and Genomics
    2. Neuroscience

    Partial loss of CFIm25 causes learning deficits and aberrant neuronal alternative polyadenylation

    Callison E Alcott et al.
    Partial reduction of CFIm25 protein levels leads to misregulated alternative polyadenylation in neurons and learning deficits.

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