{"id":"W3041872539","doi":"10.1111/epi.16582","title":"Defining the phenotype of <i>FHF1</i> developmental and epileptic encephalopathy","year":2020,"lang":"en","type":"article","venue":"Epilepsia","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"National Human Genome Research Institute","keywords":"Epilepsy; Missense mutation; Encephalopathy; Magnetic resonance imaging; Medicine; Pediatrics; Phenotype; Seizure types; Psychology; Neuroscience; Internal medicine; Genetics; Biology; Gene; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002322163,0.0004627997,0.0002648333,0.0005749434,0.0001965764,0.0002234008,0.0001874936,0.0003027193,0.000580076],"category_scores_gemma":[0.00184295,0.00008770926,0.0001193712,0.0002529291,0.000401777,0.0002735727,0.0003086584,0.0002147785,0.0002024819],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001523859,"about_ca_system_score_gemma":0.0001226317,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009177051,"about_ca_topic_score_gemma":0.0009323273,"domain_scores_codex":[0.9998252,0.00003781389,0.00003119567,0.00003516745,0.00002300552,0.0000476097],"domain_scores_gemma":[0.9995304,0.0001432973,0.0001502311,0.00002281693,0.00005477496,0.0000984156],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003742052,0.00006730002,0.9093927,0.00005721645,0.00002802792,0.03773446,0.0004728638,0.0002247165,0.02682746,0.0001894887,0.0004974494,0.02413412],"study_design_scores_gemma":[0.00002525907,0.0004723004,0.7214367,0.00002506181,0.00002338372,0.2718036,0.0003451041,0.0004917037,0.004053571,0.0001623023,0.001148353,0.00001264308],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988101,0.0001447047,0.0003598716,0.00003002362,0.000003166885,0.00001035658,0.00004490908,0.00000698153,0.0005898412],"genre_scores_gemma":[0.9993813,0.00007476023,0.0003143452,0.00003153723,0.00001086485,0.000003902308,0.0001050964,0.0000032669,0.00007488902],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0009177051,"threshold_uncertainty_score":0.001940548,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007910853850951726,"score_gpt":0.2065983008838246,"score_spread":0.1986874470328729,"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."}}