{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001303407,0.0003783036,0.0007655231,0.001106652,0.000216631,0.0009907949,0.0004759967,0.001242833,0.00236412],"category_scores_gemma":[0.001626889,0.000151337,0.0005961881,0.0006477571,0.0007292121,0.001457318,0.0006170892,0.001889711,0.000574913],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007389019,"about_ca_system_score_gemma":0.001035674,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006539295,"about_ca_topic_score_gemma":0.001386754,"domain_scores_codex":[0.9996693,0.0001116184,0.00005009538,0.00005616595,0.00008036183,0.00003251237],"domain_scores_gemma":[0.9987441,0.0008816974,0.0001281054,0.0000428248,0.0001445023,0.00005870551],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002729925,0.00007736233,0.00220397,0.006868999,0.0002355741,0.003263201,0.0003487178,0.001004778,0.005677679,0.05176024,0.02816241,0.9001241],"study_design_scores_gemma":[0.00005970888,0.0002612555,0.002817629,0.005235003,0.0003277709,0.008866402,0.0002797591,0.0004990698,0.00221955,0.04062746,0.9387411,0.00006541853],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.001525944,0.98286,0.001707466,0.01029164,0.000695824,0.000006325847,0.00004801254,0.0000371534,0.002827596],"genre_scores_gemma":[0.01353519,0.9753889,0.003766266,0.003996211,0.002091588,0.00001633043,0.0001072461,0.00001113188,0.001087232],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.00236412,"threshold_uncertainty_score":0.007908821,"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."}}