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Record W2110154997 · doi:10.1586/14737175.7.6.727

Genetics of epilepsies

2007· review· en· W2110154997 on OpenAlexaff
Danielle M. Andrade, Berge A. Minassian

Bibliographic record

VenueExpert Review of Neurotherapeutics · 2007
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicIon channel regulation and function
Canadian institutionsSickKids FoundationHospital for Sick ChildrenToronto Western HospitalUniversity of Toronto
Fundersnot available
KeywordsMendelian inheritanceEpilepsyBiologyInheritance (genetic algorithm)GeneticsGeneNeuroscience

Abstract

fetched live from OpenAlex

Epilepsy affects almost 1% of the population, and yet the pathophysiology of this disorder is unknown in the majority of the cases. Recently, a number of mutations in different genes were identified, mostly in cases of familial epilepsy with a Mendelian mode of inheritance. The majority of these genes code for voltage- or ligand-gated ion channels. Interestingly, not only generalized epilepsies, but also focal epilepsies were shown to be caused by mutated genes, which in some cases are expressed ubiquitously in the brain. This review will focus on the monogenic familial epilepsies and the clinical and molecular aspects of these diseases.

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 distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.977
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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.

Opus teacher head0.089
GPT teacher head0.409
Teacher spread0.320 · 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 teacher head, not a consensus.

Study designNot applicable
Domainnot available
GenreReview

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

Citations25
Published2007
Admission routes1
Has abstractyes

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