{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001757972,0.001896433,0.0003654147,0.0005292653,0.000296693,0.0002643434,0.0003246088,0.0006544511,0.001720665],"category_scores_gemma":[0.0005462866,0.0002399718,0.0002310881,0.0003485327,0.0004474357,0.0001649015,0.000449474,0.0004449842,0.0006349401],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001555775,"about_ca_system_score_gemma":0.0001242847,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005250571,"about_ca_topic_score_gemma":0.000836148,"domain_scores_codex":[0.9998081,0.0000350627,0.00003250324,0.00005566531,0.00003549767,0.00003307977],"domain_scores_gemma":[0.9997644,0.0000434529,0.00008704412,0.00001728313,0.00001581232,0.0000719849],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001330435,0.0003214398,0.08232195,0.0002694647,0.0002595068,0.4697921,0.0007490725,0.0005697743,0.4163225,0.0009764428,0.002376164,0.02471114],"study_design_scores_gemma":[0.0001184642,0.001001588,0.2533448,0.00004827364,0.0002168872,0.6963734,0.0002867707,0.00144008,0.0420216,0.0006200335,0.004476084,0.00005204872],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996527,0.0003802638,0.001048454,0.0001049459,0.00001894089,0.0000255677,0.0002004014,0.0001059375,0.001588586],"genre_scores_gemma":[0.9983166,0.000199244,0.0006328458,0.0000483421,0.00003401521,0.000008680247,0.0001695475,0.00002003486,0.0005706103],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001896433,"threshold_uncertainty_score":0.005756199,"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."}}