Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case–control study
Bibliographic record
Abstract
OBJECTIVE: This study was undertaken to characterize the clinical and genetic features of patients with 22q11.2 deletion syndrome (22q11.2DS) and generalized epilepsy compared with 22q11.2DS individuals without epilepsy. METHODS: This multicenter case-control study included 28 patients with 22q11.2DS-related generalized epilepsy and compared their data with 56 age-matched 22q11.2DS controls without epilepsy. Clinical and electroencephalographic features, neuropsychiatric and systemic comorbidities, family history of epilepsy, and genetic findings were collected. RESULTS: Generalized tonic-clonic seizures and myoclonic seizures were the most common electroclinical presentations, with a broader range of seizure type combinations also documented. Most patients achieved seizure remission with antiseizure medications, with only 4% exhibiting drug resistance. A higher prevalence of family history of epilepsy was observed among patients with 22q11.2DS-related generalized epilepsy compared to nonepilepsy controls, even when limiting the analysis to patients with known de novo deletions. No differences in deletion size or location were observed between the groups. Multivariable logistic regression analysis identified family history of epilepsy, intellectual disability, and lack of skeletal abnormalities as independent factors associated with generalized epilepsy, whereas a history of psychosis was significant only in univariable analysis. SIGNIFICANCE: This study provides a detailed characterization of generalized epilepsy in individuals with 22q11.2DS and highlights specific associated comorbidities. The higher prevalence of family history of epilepsy among cases suggests that genetic factors beyond the 22q11.2 deletion influence the development of the epilepsy phenotype, providing new insights into the genetic underpinnings of phenotypic variability in this syndrome.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 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 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".