A clinical cohort of 36 individuals with SYNGAP1 developmental and epileptic encephalopathy (DEE) provides data on electroencephalographic (EEG) findings and neurodevelopmental symptoms. The dataset includes standardized questionnaire results on clinical, EEG, and genetic data, with 63 video-EEGs analyzed across different age groups. It was authored by Juliana Ribeiro-Constante and last updated on 2026-05-18.
Use Cases
- Analyze the correlation between specific EEG abnormalities and age based on the description of worsening findings with increasing age.
- Investigate the prevalence of neurodevelopmental symptoms like intellectual disability and autistic traits within the SYNGAP1-DEE cohort.
- Study the distribution of interictal epileptiform discharges (IEDs) across different cortical regions as described.
- Evaluate potential EEG biomarkers, such as fixation-off sensitivity or eye closure sensitivity, for SYNGAP1 encephalopathy.
Strengths
- Includes a cohort of 36 SYNGAP1-DEE individuals, with 16 presenting novel genetic variants.
- Analyzes 63 video-EEG recordings, allowing for longitudinal assessment of EEG changes.
- Provides specific clinical prevalence statistics, such as 83.3% with intellectual disability and 91.7% with autistic traits.
Limitations
- Column-level documentation is absent; field semantics must be inferred after download.
- Row count is unknown, which may limit suitability assessment.
- The dataset is small (14.5 KB), indicating a limited scope focused on a specific cohort.
Provenance
- Source
- figshare
- Collection Method
- Standardized questionnaires were employed to collect clinical, electroencephalographic and genetic data from a new cohort.
- Time Range
- Age at diagnosis ranged from 2 to 17 years.
- Freshness
- Last updated 2026-05-18 12:21:36; freshness should be verified.