{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002191215,0.0003614906,0.0004328788,0.0003505783,0.0002283619,0.0003051627,0.000206352,0.0003336256,0.001008875],"category_scores_gemma":[0.0008002426,0.0001033495,0.0002536086,0.0003598974,0.0003158197,0.0003024098,0.0001774962,0.0002898136,0.0002006673],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002693949,"about_ca_system_score_gemma":0.0001985313,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001220727,"about_ca_topic_score_gemma":0.001043671,"domain_scores_codex":[0.9998711,0.00003523903,0.00002177961,0.00002253711,0.00001928106,0.0000299316],"domain_scores_gemma":[0.9996264,0.0001147004,0.0001187543,0.00002757992,0.00002819419,0.00008427496],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.01614396,0.0008233557,0.865499,0.00007875069,0.0002960405,0.03267489,0.0004168453,0.001271522,0.05240683,0.0004596244,0.0005102957,0.02941896],"study_design_scores_gemma":[0.00008915665,0.001124481,0.9765506,0.000009851791,0.00008232976,0.01964794,0.0001962564,0.0005164553,0.001170851,0.0003085034,0.0002827894,0.00002071844],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985235,0.000223264,0.0001103171,0.00004728535,0.000003429759,0.00000630846,0.0001530013,0.000005075361,0.0009277051],"genre_scores_gemma":[0.9994791,0.00008027363,0.00003016414,0.00001835523,0.000004819317,0.000003111733,0.000185557,0.000002420247,0.0001962003],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001220727,"threshold_uncertainty_score":0.003374994,"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."}}