{"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":"codex-gemma-dda1882f352a","candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.00009711298,0.0002249344,0.0003676051,0.0002271053,0.00007673472,0.00001574998,0.0001504072,0.0002056016,0.0003360089],"category_scores_gemma":[0.0002325687,0.0002173419,0.0001162255,0.0004424221,0.00005274485,0.00001746741,0.0001598827,0.0003091799,0.00156725],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002430763,"about_ca_system_score_gemma":0.0003602093,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001015035,"about_ca_topic_score_gemma":0.00003779633,"domain_scores_codex":[0.998147,0.00005124724,0.0002923182,0.0005098916,0.0002677043,0.000731852],"domain_scores_gemma":[0.9982423,0.0001215551,0.0000637434,0.000637618,0.00009976493,0.0008350486],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.006890012,0.00183414,0.05281376,0.0002452775,0.0006143004,0.1091481,0.002504115,0.001676742,0.181275,0.0006009631,0.5580802,0.08431735],"study_design_scores_gemma":[0.003571016,0.003606166,0.4219985,0.0000139339,0.0003377895,0.004425676,0.00005065649,0.001180396,0.0005978806,0.0001611021,0.5636975,0.0003594206],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9913306,0.0003420708,0.001686433,0.004119121,0.001200635,0.0004685133,0.000146392,0.0002228092,0.0004834575],"genre_scores_gemma":[0.9794909,0.0002373201,0.002599861,0.01506278,0.0005330499,0.00003481948,0.0001159674,0.00008139161,0.001843903],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3691847,"threshold_uncertainty_score":0.9992101,"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."}}