{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009748505,0.0008997225,0.0002723226,0.0004033979,0.0002568462,0.0002272318,0.0002578109,0.0005827881,0.002202065],"category_scores_gemma":[0.000237328,0.000106621,0.000306553,0.0002375424,0.0004625802,0.00009516603,0.0002717926,0.0003838734,0.0004574722],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002114506,"about_ca_system_score_gemma":0.0001734899,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001394958,"about_ca_topic_score_gemma":0.001843487,"domain_scores_codex":[0.9998609,0.00002159146,0.00002896816,0.00004252708,0.0000283329,0.00001761963],"domain_scores_gemma":[0.9998528,0.00004021894,0.00005091487,0.000009779059,0.00001375362,0.00003261263],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0005478831,0.0001158566,0.01057888,0.0001195142,0.0001672563,0.02175701,0.000142812,0.0007894894,0.9528295,0.001023713,0.0009692284,0.0109587],"study_design_scores_gemma":[0.0001319384,0.0009737871,0.1401017,0.00009781761,0.0004167619,0.1241517,0.0003561546,0.005696954,0.704202,0.00158836,0.02219828,0.00008448247],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9908441,0.0008657113,0.004261459,0.0001671782,0.00008062021,0.0000498936,0.001744903,0.0001391755,0.001846858],"genre_scores_gemma":[0.9956452,0.0003242885,0.002036169,0.00007813625,0.00001999963,0.00001753581,0.0009133246,0.00005580994,0.0009095743],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002202065,"threshold_uncertainty_score":0.007366657,"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."}}