{"id":"W4408745393","doi":"10.1111/epi.18376","title":"<i>MBOAT7</i> encephalopathy: Characterizing the neurology and epileptology","year":2025,"lang":"en","type":"article","venue":"Epilepsia","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's & Women's Health Centre of British Columbia; BC Children's Hospital; University of British Columbia; Children's Hospital of Eastern Ontario; McGill University; University of Alberta; McGill University Health Centre","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research","keywords":"Epilepsy; Lennox–Gastaut syndrome; Ictal; Seizure types; Medicine; Neurology; Epileptic spasms; Electroencephalography; Pediatrics; Psychology; Magnetic resonance imaging; Epilepsy syndromes; Generalized epilepsy; Fluid-attenuated inversion recovery; Anesthesia; Psychiatry","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001521488,0.0006103997,0.0001851482,0.0006009217,0.0002158076,0.0002559954,0.0001845319,0.0002361295,0.001162516],"category_scores_gemma":[0.0005865792,0.00008530671,0.0001479277,0.0003171969,0.0002998092,0.0002163839,0.0002838766,0.0001888329,0.0003059165],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001548691,"about_ca_system_score_gemma":0.0001316501,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00102798,"about_ca_topic_score_gemma":0.001383676,"domain_scores_codex":[0.9998926,0.00001588726,0.00001861192,0.0000233079,0.00001501806,0.00003457889],"domain_scores_gemma":[0.9997532,0.00003810452,0.00009199621,0.00001052059,0.00003810547,0.00006801442],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0005904766,0.0000972765,0.8309559,0.00008508106,0.00007486398,0.07146768,0.0003170926,0.0002182706,0.07687841,0.0002277812,0.000617458,0.01846971],"study_design_scores_gemma":[0.00004592045,0.0006755765,0.6544626,0.00005812805,0.00009232604,0.3268701,0.0003794762,0.001177079,0.0136018,0.0003387507,0.002283424,0.00001479601],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983278,0.0003425936,0.0003242729,0.00005468762,0.000004702708,0.000008401948,0.00005854096,0.00001166893,0.0008672049],"genre_scores_gemma":[0.9993364,0.0001106588,0.0002798749,0.00002537371,0.00001334189,0.000003633243,0.000103461,0.000004398136,0.000122871],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001162516,"threshold_uncertainty_score":0.003889024,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003459860984315818,"score_gpt":0.2191202154938195,"score_spread":0.2156603545095037,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}