{"id":"W2898557399","doi":"10.1002/acn3.677","title":"<i><scp>PI</scp>4K2A</i> deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome","year":2018,"lang":"en","type":"article","venue":"Annals of Clinical and Translational Neurology","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; University of Toronto; Hospital for Sick Children","funders":"National Institutes of Health; Hospital for Sick Children; Government of Ontario; Canadian Institutes of Health Research; Ontario Genomics; Genome Canada; Ontario Genomics Institute; Canadian Institute for Advanced Research; University of Toronto; GlaxoSmithKline","keywords":"Medicine; Dystonia; Epilepsy; Nonsense; Clonazepam; Intellectual disability; Phenotype; Nonsense mutation; Myoclonus; Global developmental delay; Disease; Nonsense-mediated decay; Genetics; Gene; Pediatrics; Psychiatry; Internal medicine; Biology","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":[0.0001992466,0.001335079,0.0002755275,0.0008156874,0.0007524105,0.0003782282,0.000336894,0.0007337361,0.002943627],"category_scores_gemma":[0.0005535336,0.0001885864,0.0003755014,0.0003640096,0.0006979623,0.0002054762,0.0004696424,0.0005466937,0.000402819],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003408972,"about_ca_system_score_gemma":0.0003384916,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003931337,"about_ca_topic_score_gemma":0.003093439,"domain_scores_codex":[0.9998538,0.00002285785,0.00002472523,0.00003944236,0.00003072243,0.00002844505],"domain_scores_gemma":[0.9997109,0.00008219318,0.00008720488,0.00001221753,0.00003293691,0.00007453888],"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":[0.0007330079,0.0001985749,0.09034447,0.000176589,0.0001819242,0.6824152,0.001465432,0.0007826292,0.2064953,0.001516395,0.001830154,0.01386035],"study_design_scores_gemma":[0.0001274105,0.0003743872,0.1459257,0.00008981951,0.0002980568,0.7916739,0.0006792166,0.002040228,0.04935312,0.0007077586,0.008680217,0.00005025681],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958474,0.0004733776,0.0008745947,0.000431596,0.00005375729,0.00001907539,0.0002686988,0.00004173084,0.001989746],"genre_scores_gemma":[0.9980114,0.0001533965,0.0006400653,0.0001340619,0.00004012069,0.000005609208,0.0001190918,0.00001261221,0.0008837779],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003931337,"threshold_uncertainty_score":0.009847462,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06420243790318654,"score_gpt":0.3549146226653013,"score_spread":0.2907121847621148,"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."}}