{"id":"W4323812763","doi":"10.1002/epi4.12719","title":"The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing","year":2023,"lang":"en","type":"article","venue":"Epilepsia Open","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Libin Cardiovascular Institute of Alberta; Alberta Children's Hospital; University of Calgary","funders":"Canadian Institutes of Health Research; UCB Pharma; Novartis Pharma; Eisai; European Commission; Hessisches Ministerium für Wissenschaft und Kunst; Deutsche Forschungsgemeinschaft; Bundesministerium für Bildung und Forschung; GW Pharmaceuticals","keywords":"Epilepsy; Intellectual disability; Copy-number variation; Cohort; Age of onset; Exome sequencing; Pediatrics; Genotype; Medicine; Candidate gene; Genetics; Phenotype; Biology; Psychiatry; Gene; Internal medicine; Disease","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002209507,0.00009000253,0.0001190167,0.00001835932,0.0001552621,0.00004303281,0.0002479044,0.00004691175,0.000003045167],"category_scores_gemma":[0.0005839904,0.00007094971,0.00002694879,0.0001380649,0.0001771808,0.000003354893,0.0003494512,0.00003728178,0.000001454578],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008081592,"about_ca_system_score_gemma":0.00005201921,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009610005,"about_ca_topic_score_gemma":0.0003704405,"domain_scores_codex":[0.9992458,0.00003718341,0.0002136788,0.000289386,0.00002756153,0.0001864488],"domain_scores_gemma":[0.9993229,0.0002539009,0.00005792289,0.0002793396,0.00003445594,0.00005149621],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005827089,0.000128942,0.8923268,0.0001519855,0.00006531177,9.656321e-7,0.0005462516,0.0001073472,0.02705738,0.00159588,0.001700728,0.07573574],"study_design_scores_gemma":[0.0004921805,0.0001924495,0.9911691,0.00001956029,0.00001090045,0.000004866752,0.0002648227,0.0004347754,0.0008553573,0.004492869,0.00195666,0.000106448],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973138,0.0009917908,0.0001093053,0.0006141299,0.00003350777,0.0007162619,0.0000790777,0.000005197396,0.0001369393],"genre_scores_gemma":[0.998098,0.0006396597,0.0008970584,0.00004118411,0.00005019129,0.0001495855,0.00005997878,0.00001394325,0.0000504084],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09884235,"threshold_uncertainty_score":0.2893245,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02267443755355019,"score_gpt":0.284094894687854,"score_spread":0.2614204571343038,"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."}}