{"id":"W1907648111","doi":"10.1111/j.1460-9568.2011.07767.x","title":"Novel α1 and γ2 GABA<sub>A</sub> receptor subunit mutations in families with idiopathic generalized epilepsy","year":2011,"lang":"en","type":"article","venue":"European Journal of Neuroscience","topic":"Neuroscience and Neuropharmacology Research","field":"Neuroscience","cited_by":111,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; McGill University; Université de Montréal","funders":"Canada Research Chairs; Savoy Foundation","keywords":"Idiopathic generalized epilepsy; Point mutation; Mutation; Epilepsy; Genetics; Biology; Penetrance; Childhood absence epilepsy; Phenotype; Gene; Neuroscience","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"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":[0.0001832262,0.001791422,0.000424022,0.001259948,0.0009626665,0.0004489785,0.000503534,0.001008487,0.002046489],"category_scores_gemma":[0.0006906152,0.0003074718,0.0005070809,0.0008455705,0.000885095,0.0001606772,0.0004553689,0.0004318822,0.0002661455],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007828787,"about_ca_system_score_gemma":0.0008246982,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.03207,"about_ca_topic_score_gemma":0.03843924,"domain_scores_codex":[0.9996188,0.00003606808,0.00003692996,0.00012538,0.0001157606,0.00006715949],"domain_scores_gemma":[0.9997079,0.00007996699,0.00008645216,0.00001437583,0.0000360718,0.00007530172],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001039899,0.0003085091,0.3402931,0.0001808702,0.0003716037,0.496213,0.004821361,0.00104446,0.1196872,0.001081487,0.002048179,0.0329104],"study_design_scores_gemma":[0.00009046127,0.0002884971,0.577291,0.00008061844,0.000326843,0.4029965,0.0009642565,0.001192487,0.01084416,0.0003735888,0.005467599,0.00008395256],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973551,0.0003303046,0.0005294172,0.0001228999,0.00001943138,0.00002787727,0.0001842886,0.00003714226,0.001393602],"genre_scores_gemma":[0.9984435,0.0001948161,0.0005056172,0.0001076369,0.00002223617,0.000007168807,0.0001229152,0.00001471666,0.000581253],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03207,"threshold_uncertainty_score":0.06376666,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09063402597866979,"score_gpt":0.2969528368053367,"score_spread":0.2063188108266669,"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."}}