{"id":"W51445181","doi":"10.1212/wnl.80.7_supplement.p05.090","title":"SCN5A Mutation Positivity in a Patient with Juvenile Myoclonic Epilepsy and Congenital Long-QT Syndrome Type 3 (P05.090)","year":2013,"lang":"en","type":"article","venue":"Neurology","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University","funders":"","keywords":"Juvenile myoclonic epilepsy; Medicine; Epilepsy; Pediatrics; Juvenile; Genetics; Psychiatry; Biology","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":[0.0002603199,0.001613174,0.0006045036,0.001330242,0.001717531,0.000677272,0.0007927876,0.002880324,0.00215966],"category_scores_gemma":[0.001828601,0.0005713388,0.0007500426,0.0007739788,0.001304743,0.0007484732,0.0009535658,0.001107589,0.0004734793],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007358824,"about_ca_system_score_gemma":0.0008040105,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004085684,"about_ca_topic_score_gemma":0.004542368,"domain_scores_codex":[0.9996822,0.00003003743,0.0000464005,0.000103443,0.00004615248,0.00009184557],"domain_scores_gemma":[0.9988962,0.000430839,0.0001603098,0.00004066442,0.0000656389,0.0004062816],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00004241469,0.00001929216,0.009124993,0.00001303335,0.000004652084,0.9876423,0.0001631491,0.00005199626,0.00215431,0.00007651241,0.0001390008,0.0005683214],"study_design_scores_gemma":[0.00001345246,0.0001019299,0.01259038,0.000007752035,0.00001612144,0.9859248,0.0001060313,0.0001741437,0.0007109141,0.0001095796,0.0002334722,0.00001147144],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9916568,0.0007691574,0.0009014789,0.001119638,0.0001141548,0.00004641785,0.0001719568,0.00006601833,0.005154442],"genre_scores_gemma":[0.9983773,0.0001941176,0.0005011631,0.0003211801,0.0001205576,0.000008017058,0.00004430652,0.00001375592,0.0004195341],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004085684,"threshold_uncertainty_score":0.008123815,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003791571158541414,"score_gpt":0.1888387656772102,"score_spread":0.1850471945186688,"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."}}