{"id":"W2581021936","doi":"10.1002/ana.24883","title":"Genetics and genotype–phenotype correlations in early onset epileptic encephalopathy with burst suppression","year":2017,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"Glycogen Storage Diseases and Myoclonus","field":"Medicine","cited_by":144,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba; Children's Hospital of Winnipeg; Children's Hospital Research Institute of Manitoba","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; Dravet Syndrome Foundation; Child Neurology Foundation","keywords":"Burst suppression; Medicine; Epilepsy; Exome sequencing; Encephalopathy; Dravet syndrome; Genetic testing; Electroencephalography; Pathology; Internal medicine; Phenotype; Genetics; Biology; Gene; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00006596149,0.00009849816,0.0002256285,0.0000802962,0.00009231961,0.00001116271,0.00009529149,0.00008643747,0.00003025475],"category_scores_gemma":[0.0001150354,0.00008049324,0.00003137624,0.00003936736,0.0002249723,0.00005362222,0.00006150983,0.0001476456,0.000009689721],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000001486872,"about_ca_system_score_gemma":0.00005244566,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001409832,"about_ca_topic_score_gemma":0.00007469548,"domain_scores_codex":[0.9992855,0.00003997726,0.0001612859,0.000211901,0.000103991,0.0001973872],"domain_scores_gemma":[0.9991878,0.0000559938,0.000128415,0.0004070288,0.0001026886,0.0001180999],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00155673,0.0001590115,0.9916025,0.00003625588,0.00002470434,0.001787229,0.0002870832,0.00003165548,0.001360002,0.0001065573,0.0003272162,0.002721047],"study_design_scores_gemma":[0.0008156558,0.001732701,0.9954609,0.00002908948,0.00005039346,0.0002304837,0.00001016732,0.0002183792,0.0002318386,0.0002319861,0.0009180979,0.00007033176],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962804,0.0006946733,0.00001870567,0.002247091,0.0001010986,0.0001879058,0.0000221889,0.000009067568,0.0004389039],"genre_scores_gemma":[0.99841,0.0003366424,0.00009020687,0.001025541,0.0000420401,0.000006466193,0.0000118075,0.00001392136,0.00006340352],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003858368,"threshold_uncertainty_score":0.3282419,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03795764344978557,"score_gpt":0.3104132213509709,"score_spread":0.2724555779011853,"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."}}