{"id":"W4285032056","doi":"10.1684/epd.2022.1452","title":"Koolen‐de Vries syndrome associated with continuous spike‐wave in sleep","year":2022,"lang":"en","type":"article","venue":"Epileptic Disorders","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Children's Hospital; McGill University Health Centre","funders":"McGill University Health Centre; McGill University","keywords":"Pediatrics; Epilepsy; Hypotonia; Electroencephalography; Ketogenic diet; Medicine; Audiology; Encephalopathy; Polysomnography; Psychology; Psychiatry","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002109473,0.0001371931,0.0001604019,0.00005591862,0.0001616518,0.00002300053,0.0001466994,0.00005731335,0.0003147419],"category_scores_gemma":[0.00005055604,0.0001404406,0.00005689101,0.0001439678,0.00007378899,0.000004540876,0.000124385,0.0001321449,0.00000529435],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006581966,"about_ca_system_score_gemma":0.00009455496,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001740195,"about_ca_topic_score_gemma":0.0007349458,"domain_scores_codex":[0.9990014,0.0001126815,0.0001837944,0.0002475636,0.0001324347,0.0003221257],"domain_scores_gemma":[0.9996328,0.00001774685,0.00008143172,0.0002022216,0.00002052201,0.00004526018],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007204537,0.00240857,0.9117703,0.000103002,0.001014581,0.0003746907,0.007024057,0.03920966,0.0194309,0.006265787,0.005799521,0.005878521],"study_design_scores_gemma":[0.007860885,0.00583014,0.8872418,0.00007343093,0.0001720799,0.0004696462,0.02842448,0.001633735,0.002025601,0.003800242,0.06051826,0.001949705],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9953018,0.0002077287,0.0001971352,0.0002918158,0.00008652425,0.0001824875,0.00005885694,0.00001816519,0.003655523],"genre_scores_gemma":[0.9971564,0.00002524404,0.0001109925,0.0002370571,0.00001891607,0.000131925,0.0002436987,0.00002490328,0.00205089],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05471874,"threshold_uncertainty_score":0.5727003,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0040572333485779,"score_gpt":0.1770323110698351,"score_spread":0.1729750777212571,"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."}}