{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004854232,0.0001607468,0.0002925484,0.00004571137,0.00005786133,0.000008939932,0.0002033425,0.0002358809,0.00002269281],"category_scores_gemma":[0.0003495741,0.0001545477,0.0001121224,0.0001283017,0.001060334,0.000009001659,0.00007397669,0.0001882652,0.000008420303],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":1.409068e-7,"about_ca_system_score_gemma":0.00006403593,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001056601,"about_ca_topic_score_gemma":0.0003094828,"domain_scores_codex":[0.9980783,0.0002369914,0.0007074872,0.0005562706,0.0001462669,0.0002746787],"domain_scores_gemma":[0.999139,0.0003248697,0.00009608271,0.0002098483,0.00009902065,0.0001312094],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003395699,0.0008177803,0.9875165,0.00002295493,0.00002404691,0.00001002348,0.0001595614,0.00004199319,0.00422673,0.0004517866,0.0007156137,0.005673412],"study_design_scores_gemma":[0.0006318058,0.002744909,0.9829451,0.000004009788,0.000006713154,0.00003875189,0.00001159877,0.0001528327,0.001625024,0.00352562,0.008232235,0.00008134679],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967035,0.0003808304,0.00008637983,0.00177292,0.0001735684,0.0001458484,0.00002579327,0.000006322799,0.0007048113],"genre_scores_gemma":[0.9963577,0.0005843987,0.0001650202,0.002721651,0.00005436422,0.000006735252,0.00006286153,0.00001513921,0.00003217461],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007516622,"threshold_uncertainty_score":0.6302274,"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."}}