{"id":"W3011315481","doi":"10.1111/epi.16480","title":"KCNT1‐related epilepsy: An international multicenter cohort of 27 pediatric cases","year":2020,"lang":"en","type":"article","venue":"Epilepsia","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":85,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital; Children's Hospital of Eastern Ontario; Hospital for Sick Children","funders":"","keywords":"Cohort; Epilepsy; Medicine; Pediatrics; White matter; Corpus callosum; Magnetic resonance imaging; Internal medicine; Pathology; Psychiatry; Radiology","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":[0.00005950373,0.0001218627,0.0001335078,0.00003195138,0.00002953026,0.00001455289,0.0002459234,0.00009185764,0.000294236],"category_scores_gemma":[0.0001242052,0.0001175531,0.0001086897,0.00006632529,0.00003957513,0.000006662335,0.0001001784,0.00006140506,0.00003963679],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006127888,"about_ca_system_score_gemma":0.00005113178,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001496291,"about_ca_topic_score_gemma":0.000002575796,"domain_scores_codex":[0.9991409,0.00003790316,0.0002528965,0.0003089106,0.0001153907,0.0001440333],"domain_scores_gemma":[0.9994171,0.00001058808,0.0001082475,0.0002122445,0.00009303502,0.000158788],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002046524,0.0002037202,0.9542353,0.00002538888,0.0001334186,0.00005818988,0.00009408679,0.000208965,0.03980932,0.0001682807,0.004477226,0.000381484],"study_design_scores_gemma":[0.002154539,0.0009388641,0.9273408,0.00001102233,0.0002182108,0.0000578754,0.0002081507,0.00221859,0.02467341,0.00006791239,0.04151789,0.0005927458],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972663,0.0003459147,0.00008039324,0.0002192299,0.0003382534,0.0001449965,0.0001608046,0.00001414358,0.001429961],"genre_scores_gemma":[0.9977223,0.0004470447,0.0002377502,0.0004250589,0.0004266972,0.000006745639,0.0005904111,0.00002124534,0.0001227554],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03704066,"threshold_uncertainty_score":0.4793678,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01105254676244438,"score_gpt":0.2501564496438131,"score_spread":0.2391039028813687,"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."}}