{"id":"W2607337803","doi":"10.1016/j.seizure.2017.04.004","title":"Genetic generalized epilepsy in three siblings with 8q21.13-q22.2 duplication","year":2017,"lang":"en","type":"article","venue":"Seizure","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":false,"ca_institutions":"University Health Network; Mount Sinai Hospital; Toronto Western Hospital; University of Toronto","funders":"Government of Ontario","keywords":"Intellectual disability; Gene duplication; Copy-number variation; Epilepsy; Trisomy; Ictal; Genetics; Medicine; Biology; Gene; 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":[0.00008316593,0.0001329309,0.000121217,0.00003848461,0.0002021595,0.00008313532,0.0002937989,0.0001240412,0.00003896408],"category_scores_gemma":[0.00002420854,0.0001151929,0.00004248885,0.00003980819,0.00006999664,0.000007726579,0.00008741273,0.00007207449,0.0000194113],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001415519,"about_ca_system_score_gemma":0.00007636842,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004584184,"about_ca_topic_score_gemma":0.002244019,"domain_scores_codex":[0.9992373,0.00001870459,0.0001604025,0.0002900383,0.00008553329,0.0002080098],"domain_scores_gemma":[0.999079,0.000003163346,0.000126189,0.0006743643,0.00006598255,0.00005134004],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002752261,0.0001523426,0.8118181,0.00006054295,0.0001167769,0.00003130932,0.0003527267,0.001654054,0.1763611,0.002968332,0.001333206,0.004876271],"study_design_scores_gemma":[0.001967653,0.0002636242,0.9495941,0.00003168937,0.00003208247,0.00006703654,0.0001071831,0.000457876,0.02781835,0.001567473,0.01767886,0.000414087],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9955595,0.0003105805,0.001072269,0.0005310301,0.00007070503,0.0001812131,0.00001767871,0.00001041158,0.002246614],"genre_scores_gemma":[0.9957096,0.00009717618,0.00248783,0.0001624375,0.0002516645,0.00005380994,0.00006826116,0.00002052272,0.001148694],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1485427,"threshold_uncertainty_score":0.4697431,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009510222971013501,"score_gpt":0.2279592677215128,"score_spread":0.2184490447504993,"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."}}