{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000208661,0.0001468402,0.00007726615,0.00004232284,0.0002402375,0.00005571159,0.0002961196,0.0000785966,0.00003480022],"category_scores_gemma":[0.000005893047,0.00006945815,0.00005620315,0.0003525343,0.00006313394,0.000002596774,0.00004959719,0.0001541743,0.00004068654],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002604853,"about_ca_system_score_gemma":0.0000503936,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000722158,"about_ca_topic_score_gemma":0.0002886147,"domain_scores_codex":[0.9990585,0.00007865801,0.0001588865,0.0002447918,0.0002343894,0.0002247401],"domain_scores_gemma":[0.9993353,0.00002376173,0.00009750628,0.0004923363,0.00002742332,0.00002359841],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"simulation_or_modeling","study_design_gemma":"not_applicable","study_design_scores_codex":[0.01101707,0.002071319,0.229693,0.0003960235,0.001054016,0.00001652401,0.0220275,0.3806437,0.01401078,0.06623594,0.2519148,0.02091929],"study_design_scores_gemma":[0.01082223,0.007126058,0.177941,0.00006796119,0.000397569,0.0002595347,0.024439,0.02710966,0.003033861,0.01234286,0.7342606,0.002199639],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9724625,0.001374559,0.0101613,0.01096606,0.001133868,0.0007053078,0.000004602304,0.00001089957,0.003180837],"genre_scores_gemma":[0.9979692,0.00009882663,0.0001436395,0.001083741,0.0005141887,0.00001911083,0.00001891616,0.00001908867,0.0001333096],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4823458,"threshold_uncertainty_score":0.2832421,"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."}}