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Record W2978959544 · doi:10.1242/dmm.040782

Targeted knockout of GABA receptor gamma 2 subunit provokes transient light-induced reflex seizures in zebrafish larvae

2019· article· en· W2978959544 on OpenAlexafffund
Meijiang Liao, Uday P. Kundap, Richard Rosch, Dominic R. W. Burrows, Martin P. Meyer, Bouchra Ouled Amar Bencheikh, Patrick Cossette, Éric Samarut

Bibliographic record

VenueDisease Models & Mechanisms · 2019
Typearticle
Languageen
FieldNeuroscience
TopicPhotoreceptor and optogenetics research
Canadian institutionsMcGill UniversityCentre Hospitalier de l’Université de MontréalMontreal Neurological Institute and HospitalUniversité de Montréal
FundersFonds de Recherche du Québec - SantéRare Disease FoundationWellcome TrustWellcome
KeywordsZebrafishKnockout mouseProtein subunitNeuroscienceGABAA receptorReflexReceptorCell biologyBiologyGeneticsGene

Abstract

fetched live from OpenAlex

Epilepsy is the most common primary neurological disorder characterized by the chronic tendency of a patient to experience epileptic seizures, which are abnormal body movements or cognitive states that result from excessive, hypersynchronous brain activity. Epilepsy has been found to have numerous etiologies and whilst about two thirds of epilepsies were classically considered idiopathic, a majority of those is now believed to be of genetic origin. Mutations in genes involved in GABA-mediated inhibitory neurotransmission have been associated with a broad range of epilepsy syndromes. Mutations in the GABA-A receptor gamma 2 subunit gene (GABRG2), for example, have been associated with absence epilepsy and febrile seizures in humans. Several rodent models of GABRG2 loss-of-function depict clinical features of the disease, however, alternative genetic models more amenable for the study of ictogenesis and for high-throughput screening purposes are still needed. In this context, we generated a gabrg2 knock-out zebrafish model (R23X) that displayed light/dark-induced reflex seizures. Through high-resolution in vivo calcium imaging of the brain, we showed that this phenotype is associated with widespread increases in neuronal activity that can be effectively alleviated by the anti-epileptic drug valproic acid. Moreover these seizures only occur at the larval stages but disappear after one week of age. Interestingly, our whole transcriptome analysis showed that gabrg2-KO does not alter the expression of genes in the larval brain. As a result, gabrg2-/- zebrafish is a novel in vivo genetic model of early epilepsies that opens new doors to investigate ictogenesis and for further drug-screening assays.

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: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.025
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.000

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 head0.042
GPT teacher head0.285
Teacher spread0.243 · 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 designBench or experimental
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

Citations43
Published2019
Admission routes2
Has abstractyes

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