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Record W4386273730 · doi:10.1016/j.ejpn.2023.08.005

Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy

2023· review· en· W4386273730 on OpenAlexaff
Nicola Specchio, Rima Nabbout, Eleonora Aronica, Stéphane Auvin, Arianna Benvenuto, Luca De Palma, Martha Feucht, Floor E. Jansen, Katarzyna Kotulska, Harvey B. Sarnat, Lieven Lagae, Sergiusz Jóźwiak, Paolo Curatolo

Bibliographic record

VenueEuropean Journal of Paediatric Neurology · 2023
Typereview
Languageen
FieldMedicine
TopicTuberous Sclerosis Complex Research
Canadian institutionsAlberta Children's HospitalUniversity of Calgary
FundersNarodowe Centrum Badań i RozwojuAgencja Badań MedycznychZonMwEuropean Commission
KeywordsTuberous sclerosisEpilepsyMedicineIntensive care medicineNeurosciencePsychologyPsychiatry

Abstract

fetched live from OpenAlex

Children with tuberous sclerosis complex (TSC), may experience a variety of seizure types in the first year of life, most often focal seizure sand epileptic spasms. Drug resistance is seen early in many patients, and the management of TSC associated epilepsy remain a major challenge for clinicians. In 2018 clinical recommendations for the management of TSC associated epilepsy were published by a panel of European experts. In the last five years considerable progress has been made in understanding the neurobiology of epileptogenesis and three interventional randomized controlled trials have changed the therapeutic approach for the management of TSC associated epilepsy. Pre-symptomatic treatment with vigabatrin may delay seizure onset, may reduce seizure severity and reduce the risk of epileptic encephalopathy. The efficacy of mTOR inhibition with adjunctive everolimus was documented in patients with TSC associated refractory seizures and cannabidiol could be another therapeutic option. Epilepsy surgery has significantly improved seizure outcome in selected patients and should be considered early in all patients with drug resistant epilepsy. There is a need to identify patients who may have a higher risk of developing epilepsy and autism spectrum disorder (ASD). In the recent years significant progress has been made owing to the early identification of risk factors for the development of drug-resistant epilepsy. Better understanding of the mechanism underlying epileptogenesis may improve the management for TSC-related epilepsy. Developmental neurobiology and neuropathology give opportunities for the implementation of concepts related to clinical findings, and an early genetic diagnosis and use of EEG and MRI biomarkers may improve the development of pre-symptomatic and disease-modifying strategies.

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)0.002
metaresearch head score (Gemma)0.015
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: Not applicable
GenreCandidate signal: Review · Consensus signal: none
Teacher disagreement score0.028
Threshold uncertainty score0.093

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0020.015
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.002
Bibliometrics0.0020.001
Science and technology studies0.0010.001
Scholarly communication0.0020.002
Open science0.0020.001
Research integrity0.0050.006
Insufficient payload (model declined to judge)0.0280.013

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 head0.392
GPT teacher head0.441
Teacher spread0.049 · 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 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

Citations49
Published2023
Admission routes1
Has abstractyes

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