{"id":"W4406136709","doi":"10.1212/wnl.0000000000210309","title":"Cortical Myoclonus in an Adolescent Boy With a De Novo Pathogenic Variant in <i>NUS1</i> Gene","year":2025,"lang":"en","type":"article","venue":"Neurology","topic":"Glycogen Storage Diseases and Myoclonus","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":false,"ca_institutions":"Mount Sinai Hospital; McGill University; Montreal Children's Hospital; Hospital for Sick Children","funders":"","keywords":"Myoclonus; Gene; Genetics; Medicine; Neuroscience; Biology; Psychology","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":[0.000146922,0.0001666877,0.0003517657,0.0002145712,0.00002761358,0.000008953337,0.000113704,0.0001612217,0.0000434193],"category_scores_gemma":[0.00006780259,0.0001443292,0.00005484344,0.0003561235,0.00006414215,0.00003227735,0.00005517115,0.0004962086,0.00001491347],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005674091,"about_ca_system_score_gemma":0.0003751609,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001656595,"about_ca_topic_score_gemma":0.0008363548,"domain_scores_codex":[0.9984615,0.0001783934,0.0002839092,0.0004479021,0.0001223662,0.0005058779],"domain_scores_gemma":[0.9993046,0.0000401013,0.00003522757,0.0003766506,0.00004243509,0.0002010076],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.01737697,0.003127781,0.5550628,0.0001628728,0.00005431427,0.3613937,0.0002759943,0.0002368387,0.05646996,0.001033795,0.0003321406,0.004472851],"study_design_scores_gemma":[0.006773239,0.002704274,0.9769513,0.00005821662,0.0001520764,0.00845372,0.00002880819,0.001677132,0.0004065149,0.00008720813,0.002523374,0.0001841449],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959279,0.0003469484,0.0002899599,0.002485082,0.0001451336,0.0004048719,0.000009474995,0.00004251997,0.0003481498],"genre_scores_gemma":[0.9802603,0.00004260183,0.0002377984,0.0192586,0.00006222302,0.00005391658,0.00001464957,0.00002130825,0.00004861404],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4218885,"threshold_uncertainty_score":0.5885574,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00888976743485032,"score_gpt":0.2595317539123511,"score_spread":0.2506419864775007,"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."}}