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Record W3048299886 · doi:10.1016/j.ebr.2020.100384

Gorlin–Goltz syndrome and epilepsy: A two-case report and review of the literature

2020· article· en· W3048299886 on OpenAlexaff
Daniel Tomasso, Elie Bou Assi, Dang Khoa Nguyen

Bibliographic record

VenueEpilepsy & Behavior Reports · 2020
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicHedgehog Signaling Pathway Studies
Canadian institutionsUniversité de Montréal
Fundersnot available
KeywordsNevoid basal-cell carcinoma syndromeEpilepsyContext (archaeology)MedicineDiseaseDermatologyIntractable epilepsyBasal cellBasal cell carcinomaPathologyPsychiatryBiology

Abstract

fetched live from OpenAlex

Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a genetic disorder with several neurological, cutaneous and skeletal manifestations. Epilepsy has been previously reported as a finding in Gorlin-Goltz syndrome but remains ill-described in the context of this disease. We report two new patients with Gorlin-Goltz syndrome featuring epilepsy and review the existing literature on the topic.

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 imitation

Not 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.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.002
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Case report · Consensus signal: Case report
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.006
Threshold uncertainty score0.012

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.002
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0020.001
Bibliometrics0.0060.004
Science and technology studies0.0010.002
Scholarly communication0.0020.004
Open science0.0020.002
Research integrity0.0040.002
Insufficient payload (model declined to judge)0.0040.002

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.

Opus teacher head0.015
GPT teacher head0.274
Teacher spread0.259 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designCase report
Domainnot available
GenreEmpirical

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".

Quick stats

Citations5
Published2020
Admission routes1
Has abstractyes

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