{"id":"W4390940025","doi":"10.1111/epi.17880","title":"<scp><i>KCTD7</i></scp>‐related progressive myoclonic epilepsy: Report of 42 cases and review of literature","year":2024,"lang":"en","type":"article","venue":"Epilepsia","topic":"Glycogen Storage Diseases and Myoclonus","field":"Medicine","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Université de Montréal; Hospital for Sick Children; Library and Archives Canada; Alberta Children's Hospital; University of Calgary; McGill University; SickKids Foundation; Montreal Neurological Institute and Hospital; Centre Hospitalier Universitaire Sainte-Justine; London Health Sciences Centre; McMaster University","funders":"","keywords":"Myoclonus; Progressive myoclonus epilepsy; Cohort; Pediatrics; Medicine; Epilepsy; Movement disorders; Epilepsy syndromes; Age of onset; Interquartile range; Magnetic resonance imaging; Dystonia; Juvenile myoclonic epilepsy; Drug Resistant Epilepsy; Genetic testing; Cohort study; Internal medicine; Psychiatry; Disease; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001064089,0.000684985,0.001197508,0.007501288,0.000447646,0.0008389581,0.0007131358,0.0006506984,0.001169793],"category_scores_gemma":[0.002488829,0.0003891198,0.0008680492,0.007534907,0.0006933758,0.0007179207,0.0007151592,0.0002143822,0.0004444999],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005244788,"about_ca_system_score_gemma":0.001627997,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001796457,"about_ca_topic_score_gemma":0.003705586,"domain_scores_codex":[0.9987738,0.0001492415,0.0006319219,0.0001859175,0.0001977809,0.0000613819],"domain_scores_gemma":[0.9977684,0.0008775864,0.0009268299,0.0001075539,0.0002475683,0.00007211838],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"case_report","study_design_scores_codex":[0.000753021,0.0002301196,0.2228905,0.1888289,0.005070643,0.1622774,0.00398396,0.0005480337,0.01564261,0.0007609911,0.009984911,0.389029],"study_design_scores_gemma":[0.000311286,0.0009742723,0.3505624,0.1062951,0.01451026,0.4145117,0.004037571,0.0004324676,0.005557831,0.0006690956,0.1019799,0.0001581479],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.1158372,0.8795859,0.000653322,0.0002577155,0.00009199475,0.0002606178,0.001115564,0.00003283507,0.002164798],"genre_scores_gemma":[0.3176161,0.677927,0.00143568,0.0006120048,0.0001795861,0.0002164425,0.00160514,0.00001559633,0.0003924445],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.007501288,"threshold_uncertainty_score":0.005627513,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009267652951124463,"score_gpt":0.2876771354655775,"score_spread":0.278409482514453,"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."}}