B.06: Two definite sudden unexpected deaths in epilepsy in a family with a DEPDC5 mutation
Bibliographic record
Abstract
Background:DEPDC5 gene, mapped to 22q12.2-q12.3, has been associated with a variety of familial epilepsies, including FFEVF, autosomal dominant nocturnal frontal lobe epilepsy, and familial TLE. Notably, DEPDC5 has never been linked to increased risk of sudden unexpected death in epilepsy (SUDEP). Methods: Cases review. Results: We studied a three-generation, non-consanguineous, French-Canadian family with nine clinically affected individuals. The index case is a 39-year-old man who started having seizures (as 2rily GTCS) at the age of 13 years. EEGs showed interictal discharges over the right anterior-temporal region. Brain MRI was unremarkable. Two individuals in this family suffered definite autopsy-confirmed SUDEP, at the ages of 58 and 50 years, respectively. Overall, seizure-history in this family can be summarized by an onset before reaching adulthood followed by subsequent progressive decrease in seizure frequency. Seizures were predominantly nocturnal 2rily GTC. Genetic analysis revealed a pathogenic heterozygous variant in the DEDPC5 gene (p.Gln216, c.646C>T), which results in a premature stop codon, in all affected family members plus on heatlhy relative. Importantly, all the subjects were cognitively intact, and there was no history of cardiac symptomatology/cardiovascular risk factor. Conclusions: The finding in this family suggests that DEPDC5 mutations may be a risk factor for SUDEP.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.003 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.004 | 0.001 |
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 source (direct Gemma or distilled Codex), 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".