{"id":"W2007527010","doi":"10.1093/brain/awu051","title":"Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome","year":2014,"lang":"en","type":"article","venue":"Brain","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":179,"is_retracted":false,"has_abstract":true,"ca_institutions":"University Health Network","funders":"National Institute for Health and Care Research; Wellcome Trust","keywords":"Affect (linguistics); Presentation (obstetrics); Genotype; Epilepsy; Medicine; Pediatrics; Internal medicine; Genetics; Psychology; Surgery; Biology; Psychiatry; Gene; Communication","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001000864,0.00008839287,0.00008981426,0.00002350816,0.00004426957,0.0000164425,0.00003190576,0.0000412683,0.00001849014],"category_scores_gemma":[0.00005982328,0.00007772649,0.00001914215,0.00001865747,0.00003290067,0.000001670843,0.00003461922,0.00001227317,0.00001568712],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002166474,"about_ca_system_score_gemma":0.000005890075,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002565723,"about_ca_topic_score_gemma":0.00005179454,"domain_scores_codex":[0.9994698,0.00006147538,0.00009287482,0.0002223108,0.00005092988,0.0001026556],"domain_scores_gemma":[0.9997282,0.00002209152,0.00002272621,0.0001473486,0.000005124816,0.00007448786],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0001372679,0.0001850338,0.1285651,0.00004404139,0.000126076,0.000003791902,0.001100142,0.0005266232,0.2905441,0.001093751,0.003662253,0.5740118],"study_design_scores_gemma":[0.001604066,0.0006979125,0.7174203,0.000003821547,0.00004510313,0.00001339489,0.0001567216,0.0001733313,0.02093727,0.0004763099,0.2582068,0.0002650034],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9921182,0.0006535653,0.005557965,0.0007785495,0.00004097988,0.0002812801,0.00001131426,0.000004428875,0.0005536737],"genre_scores_gemma":[0.9955548,0.0001462961,0.002096648,0.0005929021,0.00007511304,0.000056656,0.00008039615,0.00001050756,0.001386672],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5888551,"threshold_uncertainty_score":0.3169594,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009640209141569078,"score_gpt":0.2588221291380817,"score_spread":0.2491819199965126,"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."}}