SYNGAP1 Encephalopathy: EEG Findings and Clinical Outcomes in a 36-Patient Cohort

A clinical cohort of 36 individuals with SYNGAP1-related developmental and epileptic encephalopathy. Standardized questionnaires collected clinical, electroencephalographic, and genetic data, including 63 video EEGs analyzed across different age groups. The dataset was published by Juliana Ribeiro-Constante under a CC-BY-4.0 license and last updated in May 2026.

Use Cases

• Analyze the correlation between specific EEG findings and intellectual disability based on the reported prevalence of moderate to profound ID.
• Investigate the progression of interictal epileptiform discharges with age based on the description of worsening EEG findings.
• Study the genetic heterogeneity of SYNGAP1-DEE based on the inclusion of 16 novel gene variants.
• Model the prevalence of comorbid conditions like autistic traits and sleep disorders within this patient population.

Strengths

• Includes a cohort of 36 SYNGAP1-DEE individuals, a significant size for a rare disease study.
• Analyzes 63 video EEGs, providing a multi-observation longitudinal perspective.
• Contains 16 previously unreported SYNGAP1 gene variants, contributing to genetic knowledge.
• Reports detailed clinical prevalence statistics (e.g., 83.3% intellectual disability, 91.7% autistic traits).

Limitations

• Column-level documentation is absent; field semantics must be inferred after download.
• Row count is unknown, which may limit suitability assessment.
• Data may reflect the specific clinical bias inherent to the single cohort study design.

Provenance

Source

Juliana Ribeiro-Constante

Collection Method

Clinical evaluation using standardized questionnaires for a new cohort.

Time Range

Diagnosis ages ranged from 2 to 17 years.

Freshness

Last updated 2026-05-18 12:21:35; freshness should be verified.