Genetische Diagnostik der Epilepsien: Empfehlung der Kommission Epilepsie und Genetik der Deutschen Gesellschaft für Epileptologie (DGfE)
Bibliographic record
Abstract
Zusammenfassung Die genetische Diagnostik bei an Epilepsie erkrankten Personen ist inzwischen weit verbreitet und unstrittig sinnhaft geworden. Die Kenntnis einer genetischen Ätiologie kann die Identifikation der Diagnose, genetische Beratung, Therapie und Prognoseeinschätzung der Grunderkrankung maßgeblich unterstützen. Methoden der Hochdurchsatz-Sequenzierung erlauben inzwischen eine rasche, umfassende und kosteneffektive Diagnostik. Diese aktuellen Empfehlungen der Kommission „Epilepsie und Genetik“ der Deutschen Gesellschaft für Epileptologie (DGfE) bauen auf den Empfehlungen der International League Against Epilepsie (ILAE) Commission on Genetics auf. Wir bieten einen praxisnahen Überblick über die Indikationsstellung, praktische Umsetzung, Befundbewertung, und Möglichkeiten der Präzisionsmedizin.
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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 | 0.012 | 0.030 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.004 | 0.003 |
| Science and technology studies | 0.001 | 0.002 |
| Scholarly communication | 0.003 | 0.002 |
| Open science | 0.001 | 0.003 |
| Research integrity | 0.002 | 0.003 |
| Insufficient payload (model declined to judge) | 0.013 | 0.005 |
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".