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Metabolite profiling was performed on metabolites extracted from the entorhinal cortex and primary visual cortex of 14-15 month old APOE3/3, APOE3/4 and APOE4/4 mice. Metabolites were run on a TOF Mass Spectrometer using an ANP column. Initial analysis was done in an untargeted manner, and processin...
2017-09-05 | MTBLS530 | MetaboLights
Attention deficit hyperactivity disorder (ADHD) is a common psychiatric condition of children with a prevalence of 5-10% worldwide. Up to 30% of adults with a history of childhood ADHD maintain symptoms in later life; these adult ADHD patients are severely impaired in social and professional life d...
ORGANISM(S): Homo sapiens 
Periventricular heterotopia (PH), the most common form of grey matter heterotopia, represents a cortical malformation that is often associated with developmental delay and drug-resistant seizures1,2. The detailed neurophysiological underpinnings of PH symptoms in humans remain, however, elusive. Hum...
ORGANISM(S): Homo sapiens (Human) 
2025-01-13 | PXD038760 | Pride
Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures
Autoimmune antibody-induced neuronal hyperactivity triggers pathological Tau in IgLON5 disease
We report age-differential synaptic plasticity deficits associated with cognitive inflexibility and CaMKIIa hyperactivity in Adnp-mutant mice. These mice show impaired and inflexible contextual learning and memory additional to social and anxiety-related deficits in adults long after a marked decrea...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
Neuronal Hyperactivity in Neurons Derived from Individuals with Grey Matter Heterotopia
Neuronal hyperactivity becomes mTORC1 independent due to epigenetic changes in Tuberous Sclerosis Complex
Anti-IgLON5 disease is an autoimmunity/neurodegeneration overlap disorder, in which autoantibodies (AABs) against the neuronal cell surface protein IgLON5 lead to profound brain dysfunction. Whether neuronal Tau protein pathology and neurodegeneration found in the patient’s brains are directly relat...
ORGANISM(S): Mus musculus (Mouse) 
2026-05-21 | PXD066225 | Pride
De novo heterozygous variants in CELF2 have recently been associated with a rare neurodevelopmental disorder, yet the mechanisms linking specific variants to distinct clinical phenotypes remain poorly understood. Here, we report a cohort of 18 individuals and provide evidence that variants causing C...
ORGANISM(S): Mus musculus 
2026-05-14 | GSE325228 | GEO
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