{"id":"W4205966685","doi":"10.1093/braincomms/fcab245","title":"Variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy","year":2021,"lang":"en","type":"article","venue":"Brain Communications","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":32,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto; SickKids Foundation; Mount Sinai Hospital","funders":"National Institute on Aging; National Institutes of Health; Action Medical Research; Wellcome Trust","keywords":"Epilepsy; Myoclonus; Progressive myoclonus epilepsy; Encephalopathy; Neuroscience; Psychology; Medicine; Pediatrics; 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":[0.0001129866,0.0001211238,0.0001054159,0.00003819935,0.0001540742,0.00003935235,0.0002161002,0.00007303447,0.00001285269],"category_scores_gemma":[0.0001816335,0.0001366635,0.00001795461,0.0001379173,0.0001828766,0.000005473864,0.0006851847,0.0001009116,0.000004406078],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001115382,"about_ca_system_score_gemma":0.0001503294,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009185905,"about_ca_topic_score_gemma":0.0004589838,"domain_scores_codex":[0.999146,0.0001235945,0.0001949836,0.000294242,0.0000662317,0.0001749536],"domain_scores_gemma":[0.9993285,0.00005760383,0.0000442405,0.0004489926,0.00004593422,0.00007473212],"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":[0.0000392088,0.0006106365,0.1411981,0.00006211615,0.0001179941,0.0001257685,0.002716019,0.000007941484,0.8191354,0.001085084,0.002799288,0.03210246],"study_design_scores_gemma":[0.001495406,0.0001198082,0.9542499,0.00007831016,0.00001737653,0.0005551409,0.002132057,0.0001075222,0.01480506,0.0005806749,0.02536841,0.0004903466],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.990846,0.005533522,0.00003204291,0.001945832,0.00003040458,0.0001831177,0.00002019802,0.000007497739,0.001401424],"genre_scores_gemma":[0.9864065,0.004218577,0.00773789,0.00114696,0.000005333837,0.00006955006,0.0001818617,0.00001622561,0.0002170909],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8130518,"threshold_uncertainty_score":0.5572975,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01813432585595155,"score_gpt":0.2641231673334403,"score_spread":0.2459888414774888,"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."}}