{"id":"W1992705309","doi":"10.1177/0883073807309245","title":"Lafora Progressive Myoclonus Epilepsy: Disease Course Homogeneity in a Genetic Isolate","year":2007,"lang":"en","type":"article","venue":"Journal of Child Neurology","topic":"Glycogen Storage Diseases and Myoclonus","field":"Medicine","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Lafora disease; Epilepsy; Progressive myoclonus epilepsy; Homogeneous; Myoclonus; Medicine; Mutation; Disease; Skin biopsy; Brain biopsy; Biopsy; Pediatrics; Pathology; Gene; Genetics; Biology; Psychiatry","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":[0.0003537677,0.000209686,0.0005206929,0.0003050123,0.00005981725,0.00001211338,0.0001764048,0.0001280087,0.000127006],"category_scores_gemma":[0.0001969322,0.0001719442,0.0003035807,0.0002532784,0.0001357948,0.00007874244,0.00005010999,0.0006683654,0.00001555335],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000317347,"about_ca_system_score_gemma":0.0002648803,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006865398,"about_ca_topic_score_gemma":0.00001225701,"domain_scores_codex":[0.9980966,0.00009908561,0.0007227559,0.000247212,0.0003319322,0.0005023491],"domain_scores_gemma":[0.9982314,0.00008425221,0.0004753808,0.0002872648,0.0002079837,0.0007137603],"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":[0.01382284,0.001796692,0.3734654,0.00008632705,0.00017127,0.5935876,0.0001144282,0.0001447733,0.000358489,0.00008168719,0.002261988,0.0141085],"study_design_scores_gemma":[0.004054829,0.001962385,0.9303482,0.00008569277,0.0003948607,0.04550923,0.00001036968,0.0001043818,0.0001448533,0.0002079925,0.01702138,0.0001557967],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9716002,0.007128049,0.00009809586,0.01999312,0.0005546557,0.0003394096,0.00001142965,0.00001616376,0.0002589116],"genre_scores_gemma":[0.9808709,0.0002600151,0.0001041843,0.01799134,0.0006966431,0.000003753825,0.000003496611,0.00003322493,0.00003642257],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5568829,"threshold_uncertainty_score":0.701168,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006705234721591629,"score_gpt":0.2709053349143844,"score_spread":0.2642001001927928,"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."}}