{"id":"W4324321295","doi":"10.1212/nxg.0000000000200063","title":"New-Onset Refractory Status Epilepticus Due to a Novel MT-TF Variant","year":2023,"lang":"en","type":"article","venue":"Neurology Genetics","topic":"Glycogen Storage Diseases and Myoclonus","field":"Medicine","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre for Movement Disorders","funders":"","keywords":"Status epilepticus; Myoclonic epilepsy; Epilepsy; Multiplex ligation-dependent probe amplification; Medicine; Mitochondrial disease; Pediatrics; Exome sequencing; Epilepsia partialis continua; Heteroplasmy; Myoclonus; Mitochondrial DNA; Bioinformatics; Genetics; Pathology; Biology; Mutation; Anesthesia; Psychiatry; Exon; Gene","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":[0.00009669911,0.0006497317,0.0002529344,0.000323782,0.0004721311,0.0002178585,0.000195052,0.0007947978,0.001783375],"category_scores_gemma":[0.0006390437,0.00009703524,0.0002193473,0.0002770844,0.0003911975,0.0001920677,0.0002497213,0.0003452491,0.0002982754],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003003757,"about_ca_system_score_gemma":0.0002310947,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008967342,"about_ca_topic_score_gemma":0.001161288,"domain_scores_codex":[0.9999225,0.000009477475,0.00001225857,0.00002390907,0.0000105383,0.00002134369],"domain_scores_gemma":[0.9997717,0.00007008069,0.0000642559,0.00001113325,0.00001441734,0.00006852776],"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":[0.0001839107,0.00007114753,0.03733614,0.0000394862,0.00001843802,0.9439074,0.0002388567,0.0001522462,0.0130046,0.0004249327,0.0005647479,0.004058034],"study_design_scores_gemma":[0.00003756244,0.0001664375,0.03444445,0.00001678356,0.00002498026,0.9603349,0.0001049394,0.0005047686,0.002955514,0.0003168127,0.001083573,0.000009292765],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996796,0.0003618823,0.0006754909,0.0003869965,0.00003491595,0.00001715433,0.00009983026,0.00002397172,0.00160384],"genre_scores_gemma":[0.998988,0.0001027942,0.0002482993,0.0001131195,0.00006070145,0.000004681521,0.00006562315,0.000005133981,0.0004116854],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001783375,"threshold_uncertainty_score":0.005965948,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02130495342971301,"score_gpt":0.280858580189669,"score_spread":0.259553626759956,"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."}}