{"id":"W2555368858","doi":"10.1007/s11011-016-9933-8","title":"Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy","year":2016,"lang":"en","type":"article","venue":"Metabolic Brain Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":58,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; University of Toronto; Hospital for Sick Children","funders":"","keywords":"Neurology; Phenotype; Epilepsy; Genotype; Pyridoxine; Drug Resistant Epilepsy; Medicine; Genotype-phenotype distinction; Biology; Genetics; Bioinformatics; Internal medicine; Neuroscience; Gene","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":[0.0001464228,0.0002578885,0.0003207453,0.00006023711,0.00004315081,0.0000125351,0.0001940107,0.0001064007,0.0001125131],"category_scores_gemma":[0.000278666,0.0001686914,0.0001498991,0.00007725599,0.0001907063,0.000004413023,0.0001220384,0.00003321482,0.00001679173],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003682091,"about_ca_system_score_gemma":0.00008309691,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004389077,"about_ca_topic_score_gemma":0.00002108741,"domain_scores_codex":[0.9986308,0.00008883071,0.0002964343,0.0004964703,0.0001858122,0.0003016081],"domain_scores_gemma":[0.9988616,0.00002838608,0.00009790406,0.000607446,0.00005740903,0.0003472538],"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":[0.0008538875,0.0004864958,0.09940017,0.00005029301,0.0002958891,0.000009026398,0.00006895603,0.00000595073,0.7768216,0.002278934,0.007431945,0.1122969],"study_design_scores_gemma":[0.004085128,0.0001645747,0.6165612,0.0000157246,0.0002795077,0.000005272105,0.00003070362,0.000003424085,0.148294,0.0006598576,0.2293986,0.0005020914],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9654133,0.03166066,0.0004436098,0.001305003,0.0001879785,0.0002942344,0.0002875483,0.00001679374,0.0003908272],"genre_scores_gemma":[0.9934337,0.00215621,0.000373648,0.0005512995,0.0002656884,0.0000443584,0.00007308178,0.000034645,0.003067416],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6285276,"threshold_uncertainty_score":0.6879036,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009749975568324439,"score_gpt":0.2511213718177276,"score_spread":0.2413713962494032,"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."}}