{"id":"W1514224917","doi":"10.1111/epi.12007","title":"Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency","year":2012,"lang":"en","type":"article","venue":"Epilepsia","topic":"Diet and metabolism studies","field":"Medicine","cited_by":115,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"","keywords":"Epilepsy; Missense mutation; Proband; Medicine; Cohort; Glucose Transporter Type 1; Pediatrics; GLUT1; Genetics; Glucose transporter; Internal medicine; Mutation; Biology; Psychiatry; 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":[0.0002424105,0.00131805,0.0006333168,0.0008757993,0.0006748044,0.0006083542,0.0005496651,0.001058853,0.004195033],"category_scores_gemma":[0.002050837,0.0005662215,0.0005288371,0.0005849182,0.0005767483,0.0005696,0.0006516138,0.0005919264,0.0009848052],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003313832,"about_ca_system_score_gemma":0.0004125162,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002454284,"about_ca_topic_score_gemma":0.002831128,"domain_scores_codex":[0.9994855,0.00006249081,0.00004427666,0.0001192273,0.00009793798,0.0001904431],"domain_scores_gemma":[0.9992268,0.0002107005,0.000237244,0.00005893779,0.00005866274,0.0002076851],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003534734,0.0003442505,0.6336457,0.0001174732,0.00009989066,0.3235537,0.0009347784,0.0001664767,0.007258038,0.0002341118,0.002207103,0.03108508],"study_design_scores_gemma":[0.0000446661,0.0003282414,0.2821575,0.00008379192,0.00006328156,0.711369,0.0006599529,0.0003486389,0.001231346,0.0001851464,0.003497929,0.00003052413],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947967,0.001252572,0.0006221333,0.0002785206,0.00005767338,0.0000274439,0.0001165011,0.00008152439,0.002766863],"genre_scores_gemma":[0.9976545,0.0006952218,0.0003598527,0.0002370867,0.00007389069,0.00001504409,0.0001379222,0.00001752397,0.0008091222],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004195033,"threshold_uncertainty_score":0.01403379,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02767891854257104,"score_gpt":0.2909723034695769,"score_spread":0.2632933849270059,"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."}}