{"id":"W1969562398","doi":"10.1016/j.pediatrneurol.2012.05.004","title":"Mutation of the CLN6 Gene in Teenage-Onset Progressive Myoclonus Epilepsy","year":2012,"lang":"en","type":"article","venue":"Pediatric Neurology","topic":"Glycogen Storage Diseases and Myoclonus","field":"Medicine","cited_by":24,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; Toronto Western Hospital; University of Toronto","funders":"","keywords":"Progressive myoclonus epilepsy; Myoclonus; Epilepsy; Neuronal ceroid lipofuscinosis; Age of onset; Medicine; Genetic testing; Pediatrics; Exome sequencing; Gene mutation; Disease; Psychiatry; Mutation; Genetics; Pathology; Biology; Internal medicine; 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":[],"consensus_categories":[],"category_scores_codex":[0.0001556815,0.0001244287,0.0002448674,0.0001479169,0.00003653275,0.000002602023,0.0001108872,0.0001106882,0.0000806918],"category_scores_gemma":[0.0002550744,0.00008753683,0.0001122107,0.0004067115,0.00007777245,0.00005121918,0.0000707465,0.000232378,0.00003014289],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001469209,"about_ca_system_score_gemma":0.00009649144,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003998196,"about_ca_topic_score_gemma":0.000003243172,"domain_scores_codex":[0.9988084,0.0001393361,0.0003022828,0.0001889716,0.0001893322,0.0003717158],"domain_scores_gemma":[0.9992014,0.0001221019,0.0001846806,0.000298375,0.00006414342,0.000129338],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003619834,0.0003855229,0.9952286,0.00006772012,0.00001490003,0.00115746,0.0002433066,0.00001519347,0.000278495,0.00008127174,0.001143084,0.001022481],"study_design_scores_gemma":[0.001293314,0.0003452464,0.9938304,0.000002993185,0.0002875644,0.002226205,0.00002069618,0.00004927375,0.0005791322,0.0000636297,0.001210622,0.00009092457],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9940003,0.003599841,0.000009740072,0.0009233159,0.0006350299,0.0005144727,0.00002020795,0.00002270514,0.0002743985],"genre_scores_gemma":[0.9977196,0.0001277401,0.00008869779,0.001314083,0.0005953388,0.00005088542,0.00001594678,0.00001923328,0.00006848703],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003719299,"threshold_uncertainty_score":0.3569648,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009782988984226991,"score_gpt":0.2556683331003869,"score_spread":0.2458853441161599,"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."}}