{"id":"W2559857749","doi":"10.1212/nxg.0000000000000115","title":"FHF1 (FGF12) epileptic encephalopathy","year":2016,"lang":"en","type":"article","venue":"Neurology Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":41,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Hôpital Notre-Dame; Centre Hospitalier Universitaire Sainte-Justine","funders":"University of Toronto; Genome Canada; National Institute for Health and Care Research; National Institute of Neurological Disorders and Stroke; Ontario Brain Institute; Wellcome Trust; McGill University","keywords":"Medicine; Epilepsy; Sanger sequencing; Mutation; Bioinformatics; Psychiatry; Genetics; Gene; Biology","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0001340781,0.0008953256,0.0003420897,0.0005808679,0.0008822432,0.0002079727,0.0003741951,0.0009527112,0.007666425],"category_scores_gemma":[0.001001756,0.000105666,0.0002699454,0.0004447694,0.0004332105,0.0003636731,0.000374431,0.000579607,0.001378127],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005733122,"about_ca_system_score_gemma":0.0005177872,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007174796,"about_ca_topic_score_gemma":0.004440449,"domain_scores_codex":[0.9998682,0.00001467606,0.00001070527,0.00003158939,0.00002427025,0.00005046786],"domain_scores_gemma":[0.9997799,0.00006166629,0.00003826752,0.00001680056,0.00003100595,0.00007241569],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0002890782,0.00007012123,0.0179268,0.0001000692,0.00002917596,0.9504158,0.0001591125,0.0001468029,0.004575334,0.001241768,0.003688286,0.02135759],"study_design_scores_gemma":[0.00004799454,0.000245731,0.04026913,0.00007667224,0.00004644662,0.9362635,0.0001580898,0.0003810957,0.0040981,0.001086883,0.01730383,0.00002252808],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8974937,0.006097653,0.006131381,0.006540954,0.0007308323,0.000365782,0.002821346,0.0006711312,0.07914728],"genre_scores_gemma":[0.977156,0.001165341,0.001345055,0.001104292,0.0002879187,0.00005609622,0.0007243736,0.00003336268,0.01812761],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007666425,"threshold_uncertainty_score":0.02564681,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007389236391675741,"score_gpt":0.2144486902610636,"score_spread":0.2070594538693879,"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."}}