<i>KCNQ2</i> mutation in an infant with encephalopathy of infancy with migrating focal seizures
Bibliographic record
Abstract
A male neonate presented with seizures at 18 hours of life, characterized by tonic posturing with eye deviation to the right, apnoea, bradycardia, and oxygen desaturation. Initial structural, metabolic, and infectious work-up was unremarkable. He continued to have seizures refractory to a variety of antiepileptic medications. A phenobarbital coma was trialled, leading to cessation of clinical seizures but continuation of electrographic status epilepticus. On EEG, ictal discharges originated from both the right and left hemispheres, migrating to the opposite hemisphere, consistent with encephalopathy of infancy with migrating focal seizures. At this time, he developed septic shock and was trialled on a ketamine infusion and ketogenic diet. Due to his poor prognosis, a goals of care discussion was carried out with the family, leading to withdrawal of care and his subsequent death at one month and seven days. A posthumous genetic panel revealed a de novo KCNQ2 p.Ser247Leu variant, considered likely to be pathogenic. This is the third reported case of a KCNQ2 mutation associated with an encephalopathy of infancy with migrating focal seizures phenotype. We discuss potential cellular mechanisms underlying this unique KCNQ2 phenotype, as well as future therapeutic considerations.
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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) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| 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".