SYNGAP-1 developmental and epileptic encephalopathy: Utility of corpus callosotomy and neuromodulation
Bibliographic record
Abstract
INTRODUCTION: Variants in SYNGAP1 cause a rare childhood-onset developmental and epileptic encephalopathy (DEE). Limited reports describe palliative surgical procedures such as corpus callosotomy (CC) and vagus nerve stimulation (VNS) in SYNGAP1-related DEE. METHODS: A retrospective chart review of de-identified medical records from the SynGAP Research Fund Citizen Health Database (Citizen) who underwent CC and/or VNS was conducted. This was supplemented with one child from our centre. Details related to epilepsy, comorbidities, genetics, electroencephalogram/neuroimaging findings and treatment response are summarized. RESULTS: We identified 185 children with likely pathogenic/pathogenic variants in SYNGAP1; 156 had epilepsy (n = 156/185, 84.3 %). Fifteen children had palliative procedures (15/156, 9.6 %). Eleven children had VNS (n = 11/15, 73.3 %), and the median follow-up was 3.3 years (IQR 5.6, 3.3). Seven children had an initial > 50 % seizure reduction (n = 7/11, 63.6 %), 2 had worsening (n = 2/11, 18.2 %), 1 had no change (n = 1/11, 9.1 %), and 1 had an unknown response (n = 1/11, 9.1 %). VNS response was sustained in 3 children (3/11, 27.3 %). Two children (n = 2/15, 13.3 %) had CC only with a mean follow-up of 3.1 years; 1 became seizure-free, and the other had > 50 % seizure reduction. Two children (n = 2/15, 13.3 %) underwent VNS then CC, 1 had a > 50 % overall seizure reduction, and one had minimal change; mean follow up from CC was 3.1 years. One child from our centre had a sustained > 80 % seizure reduction (1.5 years) following CC at 7 years. CONCLUSION: The effect of VNS was variable and sustained in less children over time. CC appeared to be more effective in the few treated. Larger cohorts are required to confirm these findings in SYNGAP1-related DEE.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".