{"id":"W3119084077","doi":"10.1017/cjn.2021.3","title":"Phenotypic and Genotypic Spectrum of Glucose Transporter-1 Deficiency Syndrome","year":2021,"lang":"en","type":"article","venue":"Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques","topic":"Diet and metabolism studies","field":"Medicine","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; University Health Network; Hospital for Sick Children","funders":"Hospital for Sick Children","keywords":"Movement disorders; Pediatrics; Medicine; Dystonia; Population; Glucose Transporter Type 1; Intellectual disability; Missense mutation; Ataxia; Epilepsy; Glucose transporter; Psychiatry; Internal medicine; GLUT1; Phenotype; Genetics; Biology; Insulin","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":true,"about_ca":true,"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":[0.000135888,0.001064159,0.0003203832,0.0008266167,0.0004804469,0.0002477267,0.0002833761,0.000287569,0.004294155],"category_scores_gemma":[0.0009744359,0.0001072863,0.0001600958,0.000621985,0.0006249511,0.0001693289,0.0006048119,0.0002691017,0.0003829028],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003357593,"about_ca_system_score_gemma":0.0007794437,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004070261,"about_ca_topic_score_gemma":0.005524571,"domain_scores_codex":[0.9997358,0.00003296964,0.00002702685,0.00004922257,0.00008948684,0.00006541974],"domain_scores_gemma":[0.9996701,0.00009135788,0.00007648226,0.000009910173,0.00006468657,0.00008734482],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002892483,0.0001878783,0.5676301,0.0002189789,0.00007942412,0.3584749,0.001064689,0.001062742,0.03027324,0.00125789,0.003220224,0.03624091],"study_design_scores_gemma":[0.00004114924,0.0001877073,0.2596347,0.00008068618,0.00005094364,0.7324644,0.0006621142,0.0005660172,0.002618667,0.0005540419,0.003122196,0.000017444],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9896182,0.0004406928,0.000930936,0.0002788319,0.00001415838,0.00004568907,0.0004602353,0.0000647218,0.008146505],"genre_scores_gemma":[0.9980935,0.000314812,0.000789016,0.0001576809,0.00001683862,0.00001707408,0.0002947137,0.00001566989,0.000300625],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004294155,"threshold_uncertainty_score":0.01436538,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0261915026285572,"score_gpt":0.2518176550280321,"score_spread":0.2256261523994749,"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."}}