{"id":"W2164952242","doi":"10.1093/brain/awp336","title":"Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder","year":2010,"lang":"en","type":"article","venue":"Brain","topic":"Diet and metabolism studies","field":"Medicine","cited_by":413,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; Hospital for Sick Children","funders":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek","keywords":"Missense mutation; Glucose transporter; Epilepsy; Nonsense mutation; Exon; Medicine; Glucose Transporter Type 1; Sanger sequencing; Genetics; Phenotype; Mutation; Internal medicine; Endocrinology; Biology; Gene; GLUT1; Psychiatry; Insulin","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":[0.0002027572,0.0006083373,0.0005788463,0.000707929,0.0002278244,0.0001932793,0.0002373171,0.0004017314,0.002468628],"category_scores_gemma":[0.0009231349,0.00007565264,0.0001353781,0.0007921423,0.0002645346,0.0002554442,0.0003039626,0.0002007904,0.0005055055],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001933105,"about_ca_system_score_gemma":0.0002234015,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006265449,"about_ca_topic_score_gemma":0.0007063269,"domain_scores_codex":[0.9997787,0.00006001758,0.00002722742,0.00004149271,0.00006211922,0.00003054828],"domain_scores_gemma":[0.9997451,0.00006322274,0.00007602757,0.000009914033,0.00003079201,0.00007505288],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008927577,0.0002500229,0.7101746,0.0004416477,0.0001393037,0.07387333,0.000614387,0.0004140837,0.02302064,0.0006018548,0.004299837,0.1852776],"study_design_scores_gemma":[0.00007178128,0.0005642595,0.6349544,0.0001149908,0.0001014416,0.3546616,0.0003228061,0.0006503891,0.001725248,0.0003323308,0.006479595,0.00002118995],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9857926,0.008877375,0.001666514,0.000458268,0.00002626438,0.00003530418,0.0003133305,0.00008687681,0.002743682],"genre_scores_gemma":[0.9941099,0.003854642,0.0008305598,0.0001551796,0.00008343633,0.00002104463,0.0004382379,0.00001116752,0.0004957865],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002468628,"threshold_uncertainty_score":0.008258343,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01663322530013227,"score_gpt":0.3004984981073954,"score_spread":0.2838652728072631,"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."}}