{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001188457,0.0002582959,0.0002982776,0.0003694161,0.0001706328,0.0003660377,0.000291626,0.0004716887,0.001525913],"category_scores_gemma":[0.005149859,0.00007216819,0.0001066059,0.0003582409,0.0003711992,0.0005580324,0.0003166174,0.0002954851,0.0001551409],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001138776,"about_ca_system_score_gemma":0.0002765502,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001080096,"about_ca_topic_score_gemma":0.001328971,"domain_scores_codex":[0.9995209,0.0001992867,0.00006758627,0.00006997056,0.00009167779,0.00005067353],"domain_scores_gemma":[0.9981247,0.001256895,0.0003336621,0.00004101994,0.0001120872,0.0001317441],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002345699,0.00004178189,0.9719014,0.00003039446,0.00001661531,0.002917752,0.00009724732,0.0003043929,0.0012113,0.0001794367,0.0005055222,0.02255972],"study_design_scores_gemma":[0.00002718979,0.0002715049,0.9766035,0.00009787524,0.00002925507,0.0181561,0.0006372825,0.001996626,0.0003398994,0.0007070667,0.001125098,0.000008649581],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9945636,0.001996534,0.0009861006,0.001196329,0.00001566575,0.00001867867,0.0001494015,0.00000988727,0.001063894],"genre_scores_gemma":[0.997597,0.0006043626,0.001343191,0.0001755428,0.00005962931,0.00001440953,0.0001073784,0.000002507688,0.0000959255],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001525913,"threshold_uncertainty_score":0.00628525,"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."}}