Find research datasets worth reusing
Search datasets from major research repositories and use ShareScore to quickly assess how well each record supports discovery, access, and reuse.
25
datasets available to search
ShareScore release 0.9.0
Dataset results
25 results for “developmental and epileptic encephalopathy”
Study of TAK-935 as an Adjunctive Therapy in Participants With Developmental and/or Epileptic Encephalopathies
ClinicalTrials.gov study NCT03166215. IPD Sharing: YES. Countries: 1. Publications: 1.
Abnormal cytoskeletal remodeling but normal neuronal excitability in a mouse model of the recurrent developmental and epileptic encephalopathy-susceptibility KCNB1-p.R312H variant
Open the record for dataset details and reuse information.
Data from: SYNGAP1 encephalopathy: a distinctive generalized developmental and epileptic encephalopathy
Objective. To delineate the epileptology, a key part of the SYNGAP1 phenotypic spectrum, in a large patient cohort. Methods. Patients were recruited via investigators' practices or social media. We included patients with (likely) pathogenic SYNGAP1 variants or chromosome 6p21.32 microdeletions incorporating SYNGAP1. We analysed patients' phenotypes using a standardized epilepsy questionnaire, medical records, EEG, MRI and seizure videos. Results. We included 57 patients (53% male, median age 8 years) with SYNGAP1 mutations (n=53) or microdeletions (n=4). 56/57 patients had epilepsy: generalized in 55, with focal seizures in seven and infantile spasms in one. Median seizure onset age was 2 years. A novel type of drop attack was identified comprising eyelid myoclonia evolving to a myoclonic-atonic (n=5) or atonic (n=8) seizure. Seizure types included eyelid myoclonia with absences (65%), myoclonic seizures (34%), atypical (20%) and typical (18%) absences and atonic seizures (14%), triggered by eating in 25%. Developmental delay preceded seizure onset in 54/56 (96%) patients of whom early developmental history was available. Developmental plateauing or regression occurred with seizures in 56 in the context of developmental and epileptic encephalopathies (DEEs). 55/57 patients had intellectual disability, which was moderate to severe in 50. Other common features included behavioural problems (73%), high pain threshold (72%), eating problems including oral aversion (68%), hypotonia (67%), sleeping problems (62%), autism spectrum disorder (54%) and ataxia or gait abnormalities (51%). Conclusions. SYNGAP1 mutations cause a generalized DEE with a distinctive syndrome combining epilepsy with eyelid myoclonia and myoclonic-atonic seizures, and predilection to seizures triggered by eating.
Phenylbutyrate for Monogenetic Developmental and Epileptic Encephalopathy
ClinicalTrials.gov study NCT04937062. IPD Sharing: NO. Countries: 1. Publications: 35.
Home Ultra-long Term EEG Monitoring for Rare Epilepsies and Developmental and Epileptic Encephalopathies
ClinicalTrials.gov study NCT06855901. IPD Sharing: UNDECIDED. Countries: 1. Publications: 13.
Data from: SYNGAP1 encephalopathy: a distinctive generalized developmental and epileptic encephalopathy
Open the record for dataset details and reuse information.
XEN496 (Ezogabine) in Children With KCNQ2 Developmental and Epileptic Encephalopathy
ClinicalTrials.gov study NCT04639310. IPD Sharing: Not stated. Countries: 5. Publications: 0.
Study to Evaluate NBI-921352 as Adjunctive Therapy in Subjects With SCN8A Developmental and Epileptic Encephalopathy Syndrome (SCN8A-DEE)
ClinicalTrials.gov study NCT04873869. IPD Sharing: NO. Countries: 1. Publications: 0.
Open-label, Long-term Safety Study of LP352 in Subjects With Developmental and Epileptic Encephalopathy
ClinicalTrials.gov study NCT05626634. IPD Sharing: Not stated. Countries: 2. 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.
Natural History Study of Infants and Children With Developmental and Epileptic Encephalopathies
ClinicalTrials.gov study NCT04537832. IPD Sharing: UNDECIDED. Countries: 4. Publications: 0.
A Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathy (DEE)
ClinicalTrials.gov study NCT06908226. IPD Sharing: UNDECIDED. Countries: 6. Publications: 0.
Fenfluramine for the Treatment of Different Types of Developmental and Epileptic Encephalopathies: a Pilot Trial Exploring Epileptic and Non-epileptic Outcomes
ClinicalTrials.gov study NCT05232630. IPD Sharing: NO. 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 First-in-human Study of S230815 in Pediatric Participants With KCNT1-related Developmental and Epileptic Encephalopathy
ClinicalTrials.gov study NCT07227857. IPD Sharing: YES. Countries: 4. Publications: 0.
Genotype, Phenotype, and Disease Progression of Developmental Epileptic Encephalopathy With Onset Before 2 Years of Age
ClinicalTrials.gov study NCT06278428. IPD Sharing: UNDECIDED. Countries: 1. Publications: 0.
Developmental and Epileptic Encephalopathies Diagnosed Via Long-read Genome Sequencing
ClinicalTrials.gov study NCT07396883. IPD Sharing: NO. Countries: 1. Publications: 0.
Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Data
ClinicalTrials.gov study NCT06380192. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Genetic Investigations in Children With Developmental and Epileptic Encephalopathies in Ho Chi Minh City, Vietnam
ClinicalTrials.gov study NCT05722990. IPD Sharing: UNDECIDED. Countries: 1. Publications: 0.
A Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathies (DEE)
ClinicalTrials.gov study NCT06719141. IPD Sharing: UNDECIDED. Countries: 15. Publications: 0.
ScienceDex guides
Understand access before you commit
These curated guides explain access requirements, typical timelines, costs, and reuse considerations for widely used research datasets.
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.