{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00006754354,0.0001141187,0.0001026303,0.00001059062,0.00007476607,0.00001179197,0.0001536243,0.00004427341,0.00002676267],"category_scores_gemma":[0.00006613306,0.00009093216,0.00003455975,0.00008540857,0.0001081028,0.000002036187,0.0001696892,0.00006206957,0.00001827359],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002776198,"about_ca_system_score_gemma":0.00005748387,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003039151,"about_ca_topic_score_gemma":0.000005171989,"domain_scores_codex":[0.9993087,0.00003038476,0.0001730263,0.000237392,0.00009929566,0.0001511848],"domain_scores_gemma":[0.9997404,0.00001348408,0.00005652677,0.00009653519,0.00002284225,0.00007026026],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0000876785,0.00003567517,0.03979259,0.00003563404,0.00004712552,0.000003129655,0.001056845,0.00002897587,0.940026,0.0007801437,0.003565049,0.0145411],"study_design_scores_gemma":[0.001193376,0.0007551025,0.6613388,0.00002725816,0.00004054739,0.00002990572,0.001508119,0.0002085483,0.285185,0.000235823,0.04892565,0.0005518285],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9944617,0.001596474,0.0002024447,0.0005868853,0.00005762622,0.0001167273,0.00001019597,0.000006860801,0.002961085],"genre_scores_gemma":[0.9959254,0.0003695037,0.001889055,0.001711719,0.00001740233,0.00000798029,0.0000266861,0.0000154137,0.00003690205],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.654841,"threshold_uncertainty_score":0.3708106,"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."}}