{"id":"W3113349967","doi":"10.1111/epi.16784","title":"<i>FBXO28</i> causes developmental and epileptic encephalopathy with profound intellectual disability","year":2020,"lang":"en","type":"article","venue":"Epilepsia","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Children’s Health Foundation; National Institute of Neurological Disorders and Stroke; Health Research Council of New Zealand; National Health and Medical Research Council; Fondazione Telethon; Citizens United for Research in Epilepsy; March of Dimes Foundation","keywords":"Intellectual disability; Frameshift mutation; Epilepsy; Hypotonia; Microcephaly; Encephalopathy; Pediatrics; Lennox–Gastaut syndrome; Medicine; Movement disorders; Global developmental delay; Psychiatry; Disease; Genetics; Biology; Pathology; Phenotype","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":[0.0001017268,0.0007509309,0.0002376317,0.0003899914,0.0003586072,0.0002297026,0.0001860949,0.0003945796,0.0009905674],"category_scores_gemma":[0.0004454625,0.0001748685,0.0001915957,0.0001705357,0.0005083251,0.0001551431,0.000321671,0.0002974779,0.0003059728],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001801831,"about_ca_system_score_gemma":0.0001252716,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008122253,"about_ca_topic_score_gemma":0.001185204,"domain_scores_codex":[0.9998684,0.00001541679,0.00001390289,0.00003966058,0.00002218693,0.00004045476],"domain_scores_gemma":[0.9998004,0.00004879696,0.00006078726,0.00001226642,0.00001193912,0.00006587819],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0005045939,0.0002339229,0.3783567,0.0001007433,0.00008163102,0.5162206,0.0004938517,0.0005617887,0.06375603,0.0009943481,0.002493393,0.03620247],"study_design_scores_gemma":[0.00008229795,0.0004348287,0.2441173,0.00003131164,0.0000424246,0.7452678,0.0001201542,0.0005248353,0.006255151,0.0003765594,0.002730352,0.00001701088],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967015,0.0003270356,0.0004471662,0.00009029014,0.00001057796,0.00001329858,0.00005206381,0.00003602467,0.002322028],"genre_scores_gemma":[0.9989417,0.0001611816,0.0002835493,0.0001134765,0.00003702243,0.000004783866,0.00007085536,0.000007386086,0.0003799719],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0009905674,"threshold_uncertainty_score":0.00331378,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01211729904997828,"score_gpt":0.2080856153625627,"score_spread":0.1959683163125845,"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."}}