{"id":"W4389446980","doi":"10.1212/wnl.96.15_supplement.1598","title":"Relationship Between Genetic Variants and Disease Characteristics in Patients with SCN8A Developmental and Epileptic Encephalopathy (SCN8A-DEE) or SCN8A-Related Epilepsy (1598)","year":2021,"lang":"en","type":"article","venue":"Neurology","topic":"Epilepsy research and treatment","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Xenon Pharmaceuticals (Canada)","funders":"","keywords":"Epilepsy; Medicine; Disease; Pediatrics; Encephalopathy; Neuroscience; Genetics; Psychiatry; Psychology; Biology; Pathology","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":[0.0004775847,0.0001432326,0.0002112167,0.0006451713,0.0003164508,0.0003326928,0.000161044,0.0004084603,0.002266853],"category_scores_gemma":[0.003012212,0.0001124686,0.0002680779,0.0007029062,0.0002346252,0.0003389586,0.0002582503,0.0003735981,0.0001753208],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001819591,"about_ca_system_score_gemma":0.0001571195,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003280547,"about_ca_topic_score_gemma":0.00402789,"domain_scores_codex":[0.9996747,0.00009162722,0.00005823181,0.00007619031,0.00004705894,0.00005213815],"domain_scores_gemma":[0.9981467,0.000689926,0.0006899294,0.0000734799,0.0001444206,0.0002556374],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00008449917,0.0000163198,0.9991317,0.000003034719,0.00002235785,0.0001516361,0.00002776974,0.0000315595,0.0001021756,0.00001067119,0.00003262219,0.0003856847],"study_design_scores_gemma":[0.000006178018,0.0001082375,0.9985948,0.000004349158,0.00001526382,0.000806111,0.0001744907,0.0001445724,0.00003679087,0.00002174082,0.0000848389,0.000002579938],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993938,0.0001010411,0.00002626174,0.0000259916,0.000003249001,0.000002434283,0.0001455545,8.942671e-7,0.0003008416],"genre_scores_gemma":[0.9997147,0.00003246768,0.00002990178,0.00001325664,0.000003570411,0.000002308013,0.0001304232,6.583472e-7,0.000072683],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003280547,"threshold_uncertainty_score":0.00758338,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01899248957027114,"score_gpt":0.2549916623142618,"score_spread":0.2359991727439907,"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."}}