{"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":"codex-gemma-dda1882f352a","candidate_categories":["insufficient_payload"],"consensus_categories":["insufficient_payload"],"category_scores_codex":[0.0003199625,0.0002261193,0.0004511969,0.0001302809,0.00008981639,0.00001656954,0.0001109935,0.0001010636,0.001010414],"category_scores_gemma":[0.0003078405,0.0001906286,0.00009825423,0.0003673308,0.000134375,0.0002000236,0.00006601114,0.0002119031,0.001013394],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004918858,"about_ca_system_score_gemma":0.00005752184,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003258002,"about_ca_topic_score_gemma":0.00002031322,"domain_scores_codex":[0.9983425,0.00004764043,0.0003321564,0.0002824982,0.0003156709,0.0006795127],"domain_scores_gemma":[0.9991311,0.000139031,0.00007950961,0.0003542862,0.00006182054,0.000234265],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00007401742,0.0003519266,0.8107485,0.00003821433,0.00002249106,0.00005337301,0.002914767,7.902476e-8,0.001023206,0.0002028692,0.1821978,0.002372729],"study_design_scores_gemma":[0.0008420789,0.0001415836,0.8912306,0.00005936901,0.00006196395,0.00001985654,0.0003375369,0.000003885622,0.0007476163,0.00003699083,0.106322,0.0001965432],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9762159,0.006977393,0.00001333972,0.0008209206,0.000540688,0.000280525,0.0000606053,0.00007125467,0.01501935],"genre_scores_gemma":[0.9901038,0.0005409825,0.0001896316,0.001024993,0.0002189128,0.00004454157,0.00002096796,0.00002763686,0.007828565],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08048209,"threshold_uncertainty_score":0.9999028,"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."}}