{"id":"W2524115679","doi":"10.1111/epi.13560","title":"The molecular and phenotypic spectrum of <i><scp>IQSEC</scp>2</i>‐related epilepsy","year":2016,"lang":"en","type":"article","venue":"Epilepsia","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":58,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; SickKids Foundation; Mount Sinai Hospital","funders":"","keywords":"Epilepsy; Pediatrics; Lennox–Gastaut syndrome; Intellectual disability; Seizure types; Encephalopathy; Epileptic spasms; Medicine; Epilepsy syndromes; Cohort; West Syndrome; Psychology; Psychiatry; Internal medicine","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":[0.0001556671,0.0001542764,0.0001435309,0.00002603076,0.0001057033,0.00001888753,0.0002191609,0.0001147242,0.0000153978],"category_scores_gemma":[0.0001745429,0.00009105126,0.0001066293,0.00006581952,0.0002283989,0.000002978895,0.0001365839,0.00005207635,0.00001980401],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006781526,"about_ca_system_score_gemma":0.00005426831,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006711947,"about_ca_topic_score_gemma":0.000005476688,"domain_scores_codex":[0.9990234,0.00006121648,0.0002369391,0.0002949951,0.0001033607,0.0002800786],"domain_scores_gemma":[0.9992348,0.00007096442,0.0001153241,0.0004255541,0.00004593858,0.0001074462],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00004390492,0.00006690815,0.0126424,0.00002019427,0.0001949237,0.00001863853,0.00005724797,0.000008536662,0.9568821,0.01867656,0.004732708,0.006655885],"study_design_scores_gemma":[0.002066491,0.0006278525,0.08114702,0.0000691353,0.0001170543,0.00008846461,0.0002062728,0.00003295982,0.7237733,0.01674649,0.1748363,0.0002886593],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9891385,0.006948695,0.0004109119,0.0004378312,0.0001777972,0.0001555458,0.00004177942,0.00001115138,0.002677726],"genre_scores_gemma":[0.9971173,0.001419404,0.0000790413,0.000122699,0.00007297238,0.00001176993,0.00001873974,0.00002631365,0.001131714],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2331088,"threshold_uncertainty_score":0.3712963,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003509247683454982,"score_gpt":0.1983440113339638,"score_spread":0.1948347636505088,"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."}}