{"id":"W4223906130","doi":"10.1093/brain/awac116","title":"Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy","year":2022,"lang":"en","type":"article","venue":"Brain","topic":"Autoimmune Neurological Disorders and Treatments","field":"Medicine","cited_by":42,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa; University of Alberta","funders":"Stoneygate Trust; NIHR Cambridge Biomedical Research Centre; Ataxia UK; Department of Health and Social Care; Medical Research Council; Ministerium für Wissenschaft, Forschung und Kunst Baden-Württemberg; Canadian Institutes of Health Research; Canada Research Chairs; Japan Society for the Promotion of Science; Lily Foundation; Evelyn Trust; Ministero dell’Istruzione, dell’Università e della Ricerca; Eberhard Karls Universität Tübingen; Türkiye Bilimsel ve Teknolojik Araştırma Kurumu; Japan Agency for Medical Research and Development; Muscular Dystrophy Canada; Deutsche Forschungsgemeinschaft; Ministry of Education, Culture, Sports, Science and Technology; Wellcome Trust; University College London; University of Tokushima; National Institute for Health and Care Research; Canada Foundation for Innovation; Newton Fund","keywords":"Hypotonia; Epilepsy; Atrophy; Encephalopathy; Pathology; Medicine; Neuroscience; Biology; Internal medicine","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001927743,0.0001956793,0.0003181222,0.00008588928,0.0002983442,0.00001896051,0.000104481,0.00006896081,0.0007146336],"category_scores_gemma":[0.000164452,0.0001608988,0.00008675895,0.0002238094,0.000140054,0.00006419582,0.0002397479,0.0003318951,0.00002832731],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003555132,"about_ca_system_score_gemma":0.0001105865,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002470048,"about_ca_topic_score_gemma":0.000003534659,"domain_scores_codex":[0.9984556,0.0002110437,0.000251247,0.0004603949,0.0002992002,0.0003225359],"domain_scores_gemma":[0.9992425,0.00012293,0.0001245267,0.0003534568,0.00002618933,0.0001304395],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003421468,0.006707226,0.7757866,0.0001778675,0.0006562674,0.02239156,0.003870226,0.00001668268,0.03104206,0.0006534312,0.03314052,0.1221361],"study_design_scores_gemma":[0.004553827,0.003224887,0.9421043,0.00002607318,0.0001450369,0.001342364,0.0002336528,0.00009426218,0.00006331956,0.0007325438,0.0471986,0.0002811157],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9928381,0.002599138,0.000007867846,0.002508987,0.0001446668,0.0007166048,0.0001090102,0.0001004137,0.0009752521],"genre_scores_gemma":[0.9928418,0.0001053214,0.0001056323,0.005518839,0.00003354317,0.0002442825,0.0001249297,0.00002875242,0.0009969106],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1663178,"threshold_uncertainty_score":0.7824736,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0147511425144913,"score_gpt":0.2622382844361799,"score_spread":0.2474871419216886,"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."}}