{"id":"W2980781784","doi":"10.1002/ana.25619","title":"The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures","year":2019,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"Epilepsy research and treatment","field":"Medicine","cited_by":136,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital","funders":"National Health and Medical Research Council; Medical Research Council; National Institutes of Health; Rosetrees Trust; European Commission; Alberta Children's Hospital Research Institute; Belgian American Educational Foundation; Bureau of Educational and Cultural Affairs; Cure Kids; National Institute of Neurological Disorders and Stroke; National Institute for Health and Care Research; McGill University; McGill University Health Centre; Health Research Council of New Zealand; U.S. Department of State; Seventh Framework Programme","keywords":"Proband; Epilepsy; Microcephaly; Epileptic spasms; Phenotype; Medicine; Age of onset; Genetic heterogeneity; Biology; Genetics; Pediatrics; Bioinformatics; Gene; Mutation; Internal medicine; Disease; Psychiatry","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001267506,0.00007468753,0.0002835776,0.00004826344,0.00001781141,0.000001462794,0.00008801233,0.00004725948,0.00004683656],"category_scores_gemma":[0.00009011482,0.00004072846,0.00006656432,0.0001033499,0.0001506081,0.00001412797,0.00003294276,0.0001172181,0.000006284402],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":3.819608e-7,"about_ca_system_score_gemma":0.00006939343,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000631982,"about_ca_topic_score_gemma":0.00005693136,"domain_scores_codex":[0.9991555,0.00008384426,0.0002382398,0.0001262754,0.0001912987,0.0002048566],"domain_scores_gemma":[0.9989895,0.0003493189,0.0001391342,0.000295781,0.0001702827,0.00005599632],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001574837,0.0001412751,0.9913399,0.0001007348,0.0001325281,0.00005111367,0.0000926631,0.00003157795,0.002578872,0.0001787048,0.0007120024,0.003065766],"study_design_scores_gemma":[0.001129861,0.01041778,0.972776,0.00003769786,0.00002696321,0.00009019677,0.00003343431,0.0001733859,0.01429256,0.0001787705,0.0008090643,0.00003426784],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933765,0.001373051,0.000003727772,0.003342858,0.00002429872,0.0002398269,0.000006327095,0.000004694609,0.001628714],"genre_scores_gemma":[0.9989009,0.0005140391,0.00008773668,0.0003562435,0.00002202185,0.000007901704,0.000003264935,0.000008859849,0.00009905818],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01856392,"threshold_uncertainty_score":0.1660858,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02576122152604266,"score_gpt":0.3154166878503108,"score_spread":0.2896554663242681,"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."}}