{"id":"W4225093755","doi":"10.1177/2329048x221093173","title":"Genetic Generalized Epilepsy and Intrafamilial Phenotypic Variability with Distal 7q11.23 Deletion","year":2022,"lang":"en","type":"article","venue":"Child Neurology Open","topic":"Williams Syndrome Research","field":"Neuroscience","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital; McGill University","funders":"Fonds de Recherche du Québec - Santé; Institut de recherche, Centre universitaire de santé McGill","keywords":"Phenotype; Global developmental delay; Gene; Epilepsy; Genetic heterogeneity; Intellectual disability; Inheritance (genetic algorithm); Generalized epilepsy","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0004424574,0.0007353885,0.0004063396,0.001293246,0.00037749,0.0002766805,0.0003487887,0.0004398518,0.002192384],"category_scores_gemma":[0.002470045,0.0001909366,0.0002107273,0.0006343437,0.0006687001,0.0002129613,0.000887939,0.0003810005,0.0003331235],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001491846,"about_ca_system_score_gemma":0.000144194,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007896394,"about_ca_topic_score_gemma":0.001474199,"domain_scores_codex":[0.9994103,0.0001537846,0.00006184027,0.0001986518,0.0001092397,0.00006618068],"domain_scores_gemma":[0.9985166,0.0007796622,0.0003731566,0.0001502768,0.000072084,0.0001081554],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005905008,0.0001432975,0.7506016,0.00009068206,0.0002615064,0.1519006,0.003100908,0.0007952052,0.06918609,0.0005426321,0.001003926,0.02178292],"study_design_scores_gemma":[0.00002590112,0.0001771565,0.7488222,0.00003395195,0.0001084202,0.2444958,0.0006482812,0.0003733722,0.003657169,0.0004881248,0.001132001,0.00003759365],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986455,0.0001114132,0.0003007044,0.00003053476,0.000003171791,0.000006030193,0.0001122152,0.00001855628,0.0007717297],"genre_scores_gemma":[0.9993316,0.00008218786,0.0002240742,0.00002452374,0.000006972236,0.000007395617,0.0001685377,0.00001560545,0.0001390714],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002192384,"threshold_uncertainty_score":0.007334232,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02101925967557678,"score_gpt":0.2621192285096379,"score_spread":0.2410999688340612,"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."}}