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ShareScore release 0.9.0
Dataset results
15 results for “SCN2A”
Data from: Scn2a insufficiency alters spontaneous neuronal Ca2+ activity in somatosensory cortex during wakefulness
<p class="MsoNormal">SCN2A protein-truncating variants (PTV) can result in neurological disorders such as autism spectrum disorder and intellectual disability, but they are less likely to cause epilepsy in comparison to missense variants. While<em> <span>i</span>n vitro </em>studies showed PTV reduce action potential firing, consequences at <em>in vivo</em> network level remain elusive. Here, we generated a mouse model of Scn2a insufficiency using antisense oligonucleotides (Scn2a ASO mice), which recapitulated key clinical feature of SCN2A PTV disorders. Simultaneous two-photon <span>Ca<sup>2+</sup></span> imaging and electrocorticography (ECoG) in awake mice showed that spontaneous <span>Ca<sup>2+</sup></span> transients in somatosensory cortical neurons, as well as their pairwise co-activities were generally decreased in Scn2a ASO mice during spontaneous awake state and induced seizure state. The reduction of neuronal activities and paired co-activity are mechanisms associated with motor, social and cognitive deficits observed in our mouse model of severe Scn2a insufficiency, indicating these are likely mechanisms driving SCN2A PTV pathology.</p>
Perirhinal cortex abnormalities impair hippocampal plasticity and learning in Scn2a, Fmr1, and Cdkl5 autism mouse models
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Data from: Scn2a insufficiency alters spontaneous neuronal Ca2+ activity in somatosensory cortex during wakefulness
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Sequencing data from validation experiment for base editing of SCN2A
<p>It is challenging to apply traditional mutational scanning to voltage-gated sodium channels (NaVs) and functionally annotate the large number of coding variants in these genes. Using a cytosine base editor and a pooled viability assay, we screened a library of 368 guide RNAs (gRNA) tiling NaV1.2 to identify more than 100 gRNAs that changed NaV1.2 function. We sequenced base edits made by a subset of these gRNAs to confirm specific variants that drove changes in channel function. Electrophysiological characterization of these channel variants validated the screen results and provided functional mechanisms of channel perturbation. The majority of the changes caused by these gRNAs were classified as loss-of-function along with two missense mutations that led to gain-of-function in NaV1.2 channels. This two-tiered strategy to functionally characterize ion channel protein variants at scale identifies the largest set of loss-of-function mutations in a single NaV1.2 study to date.</p>
SCN2A Polymorphisms Are Associated With Response to Valproic Acid in Paediatric Population(Pakistan)
ClinicalTrials.gov study NCT06674070. IPD Sharing: NO. Countries: 1. Publications: 8.
Sequencing data from validation experiment for base editing of SCN2A
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CRISPR activation for SCN2A-related neurodevelopmental disorders
GEO Series GSE302897. Mus musculus. 21 samples. Type: Expression profiling by high throughput sequencing.
Human microglia in brain assembloids display region-specific diversity and respond to hyperexcitable neurons carrying SCN2A mutation
GEO Series GSE312664. Homo sapiens. 3 samples. Type: Expression profiling by high throughput sequencing.
Scn2a deletion disrupts oligodendroglia function: Implication for myelination, neural circuitry, and auditory hypersensitivity in ASD.
GEO Series GSE252185. Mus musculus. 1 samples. Type: Expression profiling by high throughput sequencing.
Personalized Antisense Oligonucleotide Therapy for Rare Pediatric Genetic Disease: SCN2A
ClinicalTrials.gov study NCT06314490. IPD Sharing: NO. Countries: 1. Publications: 0.
A Prospective, Remote Observational Study in Pediatric Participants With Early-Onset SCN2A-Developmental and Epileptic Encephalopathy
ClinicalTrials.gov study NCT05407727. IPD Sharing: Not stated. Countries: 1. Publications: 0.
A Clinical Trial of PRAX-222 in Pediatric Participants With Early Onset SCN2A Developmental and Epileptic Encephalopathy
ClinicalTrials.gov study NCT05737784. IPD Sharing: NO. Countries: 2. Publications: 0.
A Clinical Trial of Elsunersen in Pediatric SCN2A-DEE to Assess Efficacy and Safety
ClinicalTrials.gov study NCT07019922. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Prion infected ScN2a and GT1
GEO Series GSE1803. Mus musculus. 11 samples. Type: Expression profiling by array.
CRISPR activation for SCN2A-related neurodevelopmental disorders
GEO Series GSE193605. Mus musculus. 8 samples. Type: Expression profiling by high throughput sequencing.
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Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.