{"id":"W4295088693","doi":"10.1093/brain/awac330","title":"<i>ATP6V0C</i> variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy","year":2022,"lang":"en","type":"article","venue":"Brain","topic":"ATP Synthase and ATPases Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":32,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal","funders":"National Eye Institute; Medical Research Council; National Heart, Lung, and Blood Institute; Winship Cancer Institute; Citizens United for Research in Epilepsy; Fonds Wetenschappelijk Onderzoek; Department of Health and Social Care; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; National Institute for Health and Care Research; National Institutes of Health; Cancer Research UK; Vlaamse regering; European Commission; Broad Institute; National Human Genome Research Institute; Wellcome Trust; National Cancer Institute; Emory University","keywords":"Epilepsy; Neuroscience; Neurodevelopmental disorder; Medicine; Psychology; Psychiatry; Autism","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":[0.000322786,0.0001547039,0.0001239228,0.00005497878,0.000405544,0.00003037312,0.0001287263,0.00005790708,0.0002604186],"category_scores_gemma":[0.0001351439,0.0001460479,0.00006058491,0.0002525774,0.00005450164,0.000007063485,0.0002841512,0.0001813867,0.000008454414],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004901171,"about_ca_system_score_gemma":0.0002004799,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005798648,"about_ca_topic_score_gemma":0.00007038563,"domain_scores_codex":[0.9985541,0.0002209787,0.0001566148,0.0003995724,0.0003065986,0.0003621375],"domain_scores_gemma":[0.9995244,0.00003379761,0.00007139437,0.0002353345,0.00004294567,0.00009215911],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001239286,0.0008381043,0.05259147,0.00002078445,0.00038306,0.000312087,0.0002139218,0.0007875105,0.8719057,0.0000501316,0.06039678,0.01126116],"study_design_scores_gemma":[0.01308287,0.007896107,0.374823,0.0000885319,0.0001790482,0.0003261152,0.002927207,0.003086481,0.0417698,0.0001915569,0.5530047,0.002624544],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967127,0.0001291649,0.001253942,0.000795703,0.0001020354,0.0002334426,0.0001179155,0.00003436715,0.000620712],"genre_scores_gemma":[0.994042,0.000007237494,0.0000769738,0.00224906,0.0000821708,0.00008764398,0.0008379322,0.00004393626,0.002573008],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8301359,"threshold_uncertainty_score":0.595566,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009397057654996675,"score_gpt":0.2393156387582581,"score_spread":0.2299185811032614,"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."}}