{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003769377,0.0002767123,0.000832186,0.0001707008,0.0000390608,0.00002543126,0.00009522375,0.0001751927,0.0001937884],"category_scores_gemma":[0.001396555,0.0002130359,0.0003521089,0.0007221091,0.0001877203,0.000122425,0.00007516177,0.0003330778,0.00002002067],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003606705,"about_ca_system_score_gemma":0.000319949,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001531851,"about_ca_topic_score_gemma":4.303676e-7,"domain_scores_codex":[0.997893,0.00007446414,0.0008319053,0.0004980538,0.0004026083,0.000299951],"domain_scores_gemma":[0.9981603,0.0003212323,0.0003279464,0.0005741734,0.0003619124,0.000254417],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001657938,0.0007612453,0.01758524,0.1251321,0.001824277,0.5249045,0.002178507,8.466403e-7,0.004196374,0.004990673,0.2898596,0.0284009],"study_design_scores_gemma":[0.002404273,0.002317456,0.03320011,0.2177028,0.004938999,0.2291587,0.0003941942,0.0001477771,0.006097192,0.0008472626,0.5023351,0.0004561253],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.4363131,0.5594256,0.000005301757,0.0005699687,0.0003154392,0.0006817746,0.0001369462,0.00008762143,0.002464277],"genre_scores_gemma":[0.946968,0.04790799,0.0004817637,0.000650519,0.0001836491,0.00007137845,0.0004507527,0.00006454917,0.003221415],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.5115176,"threshold_uncertainty_score":0.8687351,"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."}}