ATP1A2 : un facteur essentiel dans la migraine hémiplégique familiale
Bibliographic record
Abstract
> Il est communement admis que la migraine presente une forte composante genetique. A cet egard, des travaux recents qui ont etabli que des formes autosomiques rares de migraine avec aura, migraine hemiplegique familiale (FHM), sont associees a des mutations faux-sens dans au moins deux genes, ont ouvert de nouvelles perspectives sur la physiologie de la migraine. Ces deux genes, CACNA1A qui code la sous-unite α1 du canal neuronal de Ca2+ sensible au voltage (CaV2.1) et ATP1A2 qui code l’isoforme α2 de la Na,K-ATPase sont impliques dans la FHM1 et la FHM2 respectivement. A eux deux, ils repondent a la plupart des cas de FHM [1]. Recemment neanmoins, une mutation fauxsens (G1489K) dans le gene SCN1A du canal ionique du Na+ dependant du voltage neuronal a egalement ete signalee [2]. Il est probable que, considerees conjointement, la FHM et peut-etre d’autres formes de migraine resultent d’une deficience du transport normal de cations. Cet article discute la nature des alterations fonctionnelles susceptibles de justifier le phenotype de la FHM2. La structure de la Na,K-ATPase, diversite de fonctions et d’isoformes
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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 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.002 | 0.000 |
| 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".