SYNGAP1 Encephalopathy: Developmental EEG Outcomes in a 36-Patient Cohort

Table1_Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.xlsx contains clinical and electroencephalographic data from a cohort of 36 individuals with SYNGAP1-related developmental and epileptic encephalopathy. The dataset, authored by Juliana Ribeiro-Constante and last updated in May 2026, includes standardized questionnaire results on clinical symptoms, EEG findings, and genetic variants. It focuses on the distribution of interictal abnormalities and their changes with age.

Use Cases

• Analyze the correlation between age and specific EEG abnormalities, such as disorganized background or posterior discharges.
• Investigate the prevalence of comorbid conditions like intellectual disability, autistic traits, and sleep disorders within the SYNGAP1-DEE cohort.
• Identify potential EEG biomarkers for SYNGAP1 encephalopathy based on features like fixation-off sensitivity or eye closure sensitivity.
• Study the association between novel SYNGAP1 gene variants and clinical or electroencephalographic phenotypes.

Strengths

• The dataset is based on a clearly defined cohort of 36 SYNGAP1-DEE individuals.
• It includes 16 previously unreported genetic variants in the SYNGAP1 gene.
• Analysis is based on a revision of 63 video-EEG (VEEG) recordings.
• The description provides specific prevalence statistics for key clinical features (e.g., 83.3% with intellectual disability).

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 at 24.9 KB, indicating limited scope.

Provenance

Source

Juliana Ribeiro-Constante via figshare.

Collection Method

Standardized questionnaires were employed to collect clinical, electroencephalographic and genetic data from a new cohort.

Time Range

Patient ages at diagnosis ranged from 2 to 17 years.

Freshness

Last updated 2026-05-18 12:21:36; freshness should be verified.