{"id":"W2917788381","doi":"10.1097/ypg.0000000000000219","title":"Understanding the schizophrenia phenotype in the first patient with the full SCN2A phenotypic spectrum","year":2019,"lang":"en","type":"article","venue":"Psychiatric Genetics","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":21,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Centre for Addiction and Mental Health; University Health Network","funders":"","keywords":"Phenotype; Exome sequencing; Ataxia; Genetics; Mutation; Sodium channel; Channelopathy; Schizophrenia (object-oriented programming); Medicine; Protein subunit; Biology; Gene; Neuroscience; Chemistry; Sodium; Psychiatry","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":[0.0001287896,0.0008308261,0.0003875136,0.0007854365,0.0007274353,0.0004797095,0.0003460484,0.001554099,0.001929965],"category_scores_gemma":[0.0006188652,0.0002658019,0.0003559836,0.0002507687,0.0004665433,0.0006106782,0.0007361851,0.0008823028,0.0006275779],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005421687,"about_ca_system_score_gemma":0.0004818786,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00247505,"about_ca_topic_score_gemma":0.003379125,"domain_scores_codex":[0.9998876,0.000009272133,0.00001628347,0.00003247125,0.00002268905,0.00003173185],"domain_scores_gemma":[0.9998056,0.00003974111,0.00002839219,0.00001113414,0.00002097501,0.00009412711],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001465702,0.00009590562,0.05103542,0.00008559138,0.00001520195,0.8914861,0.001495122,0.0002776966,0.03648973,0.0009640406,0.001587366,0.01632125],"study_design_scores_gemma":[0.00001949259,0.0001803321,0.03126427,0.00004716575,0.00002142282,0.9601639,0.0005204132,0.0005508043,0.003850322,0.0008966831,0.00245228,0.00003303366],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9883108,0.001112495,0.001957139,0.002840091,0.00007646401,0.0000490995,0.0002614347,0.0001360462,0.00525652],"genre_scores_gemma":[0.9939873,0.0009465241,0.002504594,0.0008830997,0.0001087759,0.00001855429,0.0001730488,0.00003252605,0.001345479],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00247505,"threshold_uncertainty_score":0.006456375,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01561655889199108,"score_gpt":0.2065405989733803,"score_spread":0.1909240400813892,"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."}}