{"id":"W2559857749","doi":"10.1212/nxg.0000000000000115","title":"FHF1 (FGF12) epileptic encephalopathy","year":2016,"lang":"en","type":"article","venue":"Neurology Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":41,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Hôpital Notre-Dame; Centre Hospitalier Universitaire Sainte-Justine","funders":"University of Toronto; Genome Canada; National Institute for Health and Care Research; National Institute of Neurological Disorders and Stroke; Ontario Brain Institute; Wellcome Trust; McGill University","keywords":"Medicine; Epilepsy; Sanger sequencing; Mutation; Bioinformatics; Psychiatry; Genetics; Gene; Biology","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008933151,0.0002319475,0.0001504042,0.00005907787,0.00008746582,0.00001207168,0.0003559765,0.0002177872,0.000102357],"category_scores_gemma":[0.00006721297,0.000183836,0.00008665321,0.00008619764,0.0002201847,0.000001977597,0.0002424627,0.00008688847,0.0001834665],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004598266,"about_ca_system_score_gemma":0.00007094583,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001083233,"about_ca_topic_score_gemma":0.00002624213,"domain_scores_codex":[0.9984446,0.00009405926,0.0002506168,0.0006024359,0.000148876,0.0004593717],"domain_scores_gemma":[0.9992013,0.00002285903,0.00007328018,0.0005021233,0.00006238135,0.0001380357],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00007684765,0.00005919188,0.04226238,0.000004336839,0.00001959295,0.00001380407,0.00001655187,0.00002369831,0.9381339,0.00005220512,0.002989457,0.01634805],"study_design_scores_gemma":[0.001673626,0.002089409,0.4666423,0.000006930162,0.00002796428,0.0001324264,0.00001044682,0.00002662801,0.2822774,0.0007946939,0.245723,0.0005951267],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9943617,0.0006327369,0.00116556,0.001225136,0.0005470132,0.0001700171,0.00001730089,0.00002581354,0.001854707],"genre_scores_gemma":[0.9931878,0.002015727,0.0005263124,0.003264522,0.00009031279,0.00002614635,0.0000168219,0.00004768179,0.0008246658],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6558564,"threshold_uncertainty_score":0.7496615,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007389236391675741,"score_gpt":0.2144486902610636,"score_spread":0.2070594538693879,"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."}}