{"id":"W2981968497","doi":"10.1111/epi.16372","title":"The epileptology of GNB5 encephalopathy","year":2019,"lang":"en","type":"article","venue":"Epilepsia","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"Health Research Council of New Zealand; National Institute of Neurological Disorders and Stroke; Medical Research Council; NIH Clinical Center; National Institutes of Health; Ministero della Salute; National Health and Medical Research Council; Cure Kids","keywords":"Hypsarrhythmia; Epileptic spasms; Encephalopathy; Status epilepticus; Epilepsy; Pediatrics; Atrophy; Electroencephalography; Medicine; Hypotonia; Psychology; Pathology; Internal medicine; Psychiatry","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":[0.000125615,0.0006005127,0.0001784614,0.0005985826,0.0004152168,0.0001889287,0.0001221176,0.0003031138,0.00169061],"category_scores_gemma":[0.0006440105,0.0001620851,0.0001444286,0.0002612137,0.0003780134,0.0002514499,0.0003299149,0.000207767,0.0002074756],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002913223,"about_ca_system_score_gemma":0.0002466958,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001779494,"about_ca_topic_score_gemma":0.002807996,"domain_scores_codex":[0.9999044,0.00002196892,0.00001476815,0.00001823919,0.00001581442,0.00002472912],"domain_scores_gemma":[0.9998403,0.00004541684,0.00005588263,0.000006832412,0.00001449584,0.00003698791],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004406242,0.00009480992,0.5147849,0.0001964816,0.00007090838,0.4021022,0.001071116,0.0007102645,0.04472502,0.001713667,0.001151759,0.03293829],"study_design_scores_gemma":[0.00002792766,0.0001456863,0.3992919,0.00007658015,0.00003625797,0.5902371,0.0003147499,0.0006367011,0.006480941,0.0004805064,0.0022579,0.0000136129],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964701,0.0006212665,0.0006254352,0.0001319725,0.000007896731,0.0000093771,0.00007885403,0.00002223891,0.002032988],"genre_scores_gemma":[0.9988938,0.0002690185,0.0003816762,0.00005009272,0.00000830549,0.000003945847,0.00008009544,0.000004805355,0.0003082601],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001779494,"threshold_uncertainty_score":0.005655587,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.002089739475879131,"score_gpt":0.2002331521774834,"score_spread":0.1981434127016043,"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."}}