{"id":"W2024770631","doi":"10.1002/ana.20874","title":"A mutation in the GABA<sub>A</sub> receptor α<sub>1</sub>‐subunit is associated with absence epilepsy","year":2006,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"Neuroscience and Neuropharmacology Research","field":"Neuroscience","cited_by":206,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Hôpital Notre-Dame","funders":"","keywords":"Haploinsufficiency; Epilepsy; Childhood absence epilepsy; Mutation; Generalized epilepsy; Mutant; Protein subunit; Biology; Receptor; Medicine; Neuroscience; Genetics; Phenotype; 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":[0.0001470497,0.0007884593,0.0003392078,0.0007863441,0.0003375,0.0002016451,0.0002394379,0.0005507323,0.001854898],"category_scores_gemma":[0.001008068,0.0002053634,0.0001894504,0.0003579826,0.0005311688,0.0001902324,0.0002364143,0.0002711122,0.000293344],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001797181,"about_ca_system_score_gemma":0.0001600317,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008825462,"about_ca_topic_score_gemma":0.001411972,"domain_scores_codex":[0.9998248,0.00002258452,0.0000278239,0.00005869325,0.00003546483,0.00003068801],"domain_scores_gemma":[0.9994206,0.0001873395,0.0002527886,0.00002844851,0.00003515228,0.00007564402],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001258216,0.000201111,0.6863797,0.0002559244,0.0002245769,0.09226625,0.001063643,0.0004845026,0.1960531,0.0003633139,0.0007463925,0.02070326],"study_design_scores_gemma":[0.00009129018,0.0004511263,0.7400779,0.00003653842,0.0001756546,0.2427679,0.0003047653,0.0005122852,0.01423824,0.0001425781,0.00118209,0.00001965341],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994608,0.000145633,0.0001103077,0.0000274413,0.000003149809,0.000003561636,0.00003475558,0.000006434084,0.0002079016],"genre_scores_gemma":[0.9994743,0.0001020773,0.0001881446,0.00002456852,0.00001054296,0.000002477431,0.00006505066,0.000003960812,0.0001289714],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001854898,"threshold_uncertainty_score":0.006205261,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06878945784450283,"score_gpt":0.3335211143974193,"score_spread":0.2647316565529164,"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."}}