{"id":"W4387139189","doi":"10.1038/s41525-023-00370-z","title":"SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy","year":2023,"lang":"en","type":"article","venue":"npj Genomic Medicine","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Krembil Foundation; Public Health Ontario; University of Toronto; Hospital for Sick Children","funders":"Engineering and Physical Sciences Research Council; Medical Research Council; Canadian Institutes of Health Research; Horizon 2020 Framework Programme; Sheffield Children's NHS Foundation Trust; St George's University Hospitals NHS Foundation Trust; Odense Universitetshospital; Eisai; Ministero dell’Istruzione, dell’Università e della Ricerca; Norges Forskningsråd; National Centre for the Replacement, Refinement and Reduction of Animals in Research; European Commission; Action Medical Research; Sheffield Teaching Hospitals NHS Foundation Trust; University of Nottingham; Syddansk Universitet; Canada Research Chairs; Swansea University; Nationwide Children's Hospital; Epilepsy Research UK; National Institute for Health and Care Research; Nottingham University Hospitals NHS Trust; Health and Care Research Wales; Royal Free London NHS Foundation Trust; Medical Research Council Centre for Neurodevelopmental Disorders; GW Pharmaceuticals; University Hospitals Birmingham NHS Foundation Trust; Parc Geneteg Cymru","keywords":"Juvenile myoclonic epilepsy; Impulsivity; Epilepsy; Juvenile; Myoclonic epilepsy; Neuroscience; Psychology; Biology; Psychiatry; Genetics","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":[0.0001130925,0.0003050263,0.000185899,0.0006171824,0.0001496098,0.0001735653,0.000122111,0.000168256,0.001371611],"category_scores_gemma":[0.000208912,0.0001445951,0.0002695015,0.0003467504,0.0001561758,0.00006472033,0.0002713983,0.0002185932,0.00007671731],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001717535,"about_ca_system_score_gemma":0.0001084468,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003052108,"about_ca_topic_score_gemma":0.005390117,"domain_scores_codex":[0.9999201,0.00001184044,0.00000908017,0.00002640169,0.00001848502,0.00001411673],"domain_scores_gemma":[0.9997484,0.0000423044,0.0001375606,0.00001222447,0.00001536967,0.00004413863],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001064582,0.00008214203,0.3678489,0.00007809292,0.0002305944,0.00174494,0.0001461402,0.0003250815,0.6219014,0.000105774,0.0001590105,0.006313362],"study_design_scores_gemma":[0.00001115689,0.00005383854,0.994086,0.000004413263,0.00005310824,0.0008150263,0.00003504891,0.0005478195,0.004211425,0.00004273052,0.0001359777,0.000003490626],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994074,0.0001042705,0.0002222657,0.00001345059,8.417706e-7,0.000002636336,0.0001516372,0.000007404803,0.00009022505],"genre_scores_gemma":[0.999198,0.00005493311,0.0002670032,0.00001124101,0.0000010837,0.000004405326,0.0001984453,0.000003830499,0.0002609385],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003052108,"threshold_uncertainty_score":0.006068707,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01101149644886268,"score_gpt":0.2543329586746472,"score_spread":0.2433214622257845,"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."}}