{"id":"W4391996854","doi":"10.3390/genes15030266","title":"Genetic Advancements in Infantile Epileptic Spasms Syndrome and Opportunities for Precision Medicine","year":2024,"lang":"en","type":"article","venue":"Genes","topic":"Cardiac Arrhythmias and Treatments","field":"Medicine","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto; McMaster University","funders":"","keywords":"Precision medicine; Epilepsy; West Syndrome; Medicine; Neuroscience; Biology; Genetics","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":[0.0001058154,0.0001217468,0.0002707151,0.0001702613,0.00003040116,0.00001316994,0.00002111528,0.00004289256,0.00009101198],"category_scores_gemma":[0.00002197639,0.00009015044,0.00004875873,0.00007927058,0.00005343108,0.00005920211,0.00003038723,0.000040277,0.000009082175],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003382021,"about_ca_system_score_gemma":0.00004741353,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003054909,"about_ca_topic_score_gemma":0.00001363099,"domain_scores_codex":[0.9992412,0.00001253352,0.0002046495,0.000233339,0.000139526,0.0001687327],"domain_scores_gemma":[0.9996365,0.00008967247,0.00001957712,0.0001444697,0.00002573189,0.00008402174],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0002257459,0.00007999,0.04256103,0.0009706394,0.0002534039,0.00309756,0.0006386504,0.00002827183,0.001254471,0.0003524476,0.002090581,0.9484472],"study_design_scores_gemma":[0.007552168,0.003158222,0.6297637,0.003712502,0.0009168721,0.003436089,0.0009901273,0.002637399,0.0008586533,0.003055373,0.3434042,0.0005147025],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9695041,0.0273811,0.000318399,0.0009691971,0.0004673512,0.0005765079,0.00003371805,0.00003824982,0.0007114299],"genre_scores_gemma":[0.9904874,0.00632154,0.0009705977,0.0001324557,0.0001566599,0.0001351743,0.00005017346,0.00002316468,0.00172281],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9479325,"threshold_uncertainty_score":0.3676228,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0398511012214961,"score_gpt":0.3125181827945894,"score_spread":0.2726670815730933,"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."}}