{"id":"W2062701430","doi":"10.1111/j.1528-1167.2008.01542.x","title":"Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy","year":2008,"lang":"en","type":"article","venue":"Epilepsia","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"","keywords":"Progressive myoclonus epilepsy; White matter; Myoclonus; Epilepsy; Mutation; Medicine; Pathology; Neuroscience; Psychology; Magnetic resonance imaging; Biology; Genetics; Gene; Radiology","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":[],"consensus_categories":[],"category_scores_codex":[0.0000647604,0.0002101757,0.0001594446,0.00004245972,0.0001815912,0.00003987068,0.0001779278,0.0001104619,0.0004576356],"category_scores_gemma":[0.00002205,0.0001744311,0.00008223798,0.0001106172,0.0001742501,0.00001492973,0.00006724374,0.0000927491,0.0002155062],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000156437,"about_ca_system_score_gemma":0.0001087926,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006293441,"about_ca_topic_score_gemma":0.000004995995,"domain_scores_codex":[0.9987807,0.00006249036,0.0002052551,0.0004246527,0.0002096196,0.0003172945],"domain_scores_gemma":[0.9991379,0.000006362355,0.0001177635,0.0004372522,0.00009565011,0.0002051125],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002368037,0.0001011328,0.9542157,0.00001523347,0.00005069583,0.0003618942,0.0001814377,0.0001254484,0.006527437,0.00006719503,0.03787919,0.0002378213],"study_design_scores_gemma":[0.001134453,0.0002743002,0.9654159,0.00002980282,0.00003548228,0.0005643722,0.00009039344,0.00006612157,0.005778432,0.00002641345,0.02616271,0.0004216024],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9912609,0.0004411208,0.001025856,0.0007059572,0.000117161,0.0002505242,0.00002063755,0.00003985436,0.006138032],"genre_scores_gemma":[0.9893137,0.000039353,0.001245694,0.001364254,0.0002688375,0.00005313989,0.0001532207,0.00003972004,0.00752206],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01171648,"threshold_uncertainty_score":0.7113095,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0115004850658285,"score_gpt":0.2387408754231875,"score_spread":0.227240390357359,"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."}}