Progressive Myoclonus Epilepsy of Lafora
Bibliographic record
Abstract
Abstract Lafora disease is an autosomal recessive form of progressive myoclonus epilepsy characterized by a severe course that leads to death in 5–10 years in most patients. Patients present with myoclonic, absence, and generalized tonic-clonic seizures at onset, typically at around age 14–15 years. As the disease progresses, difficulties in speech generation and gait as well as cognitive decline appear. Seizures soon become intractable and, due to a rapidly progressing dementia, patients become severely incapacitated and die. Lafora bodies are the characteristic hallmark and consist of an abnormal, poorly branched, intracellular glucose polymer accumulating in many tissues, including heart, skeletal muscle, liver, and brain. They can be observed on optic microscopy as periodic acid–Schiff-positive (PAS) cytoplasmic inclusions. Lafora bodies thus resemble glycogen with reduced branching, suggesting an alteration in glycogen metabolism as the cause of their accumulation. Since the localization of the first gene for Lafora disease in 1995, major advances have led to a better understanding of the basic mechanisms involved in this adolescent-onset and deadly disease.
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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 | 0.000 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.001 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.017 | 0.008 |
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".