{"id":"W4392879123","doi":"10.1111/epi.17939","title":"Clinical and molecular characterization of patients with <scp><i>YWHAG</i></scp>‐related epilepsy","year":2024,"lang":"en","type":"article","venue":"Epilepsia","topic":"14-3-3 protein interactions","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Alberta Children's Hospital; McGill University Health Centre; University of Calgary","funders":"National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; National Institutes of Health; Kaohsiung Chang Gung Memorial Hospital; Agenzia Italiana del Farmaco, Ministero della Salute; Fondazione Cassa di Risparmio di Firenze; Medical Research Council; Leids Universitair Medisch Centrum; Regione Toscana; Syddansk Universitet; Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta; Université de Bretagne Occidentale; Università degli Studi di Cagliari; Centre National de la Recherche Scientifique; Chang Gung Medical Foundation; Assistance publique-Hôpitaux de Paris; Universiteit Leiden; Institut National de la Santé et de la Recherche Médicale; Novo Nordisk Fonden; Université de Nantes; Aix-Marseille Université; Ministero della Salute; Université de Lyon; Fondazione IRCCS Policlinico San Matteo; Muscular Dystrophy Association","keywords":"Epilepsy; Clinical neurology; Medicine; Psychology; Neuroscience","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":[0.0002027119,0.0004579018,0.0002986139,0.0008078296,0.0003442143,0.0003793111,0.0002047168,0.0004640646,0.001929783],"category_scores_gemma":[0.001381238,0.0001619704,0.0002146115,0.0004454846,0.0003267534,0.0003160558,0.0002551368,0.0002461559,0.0003959296],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001687467,"about_ca_system_score_gemma":0.0001782713,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006642065,"about_ca_topic_score_gemma":0.0005524073,"domain_scores_codex":[0.9998054,0.00002966349,0.00003196008,0.00005521586,0.00002798262,0.00004974569],"domain_scores_gemma":[0.9995179,0.0001408947,0.0001416441,0.00003010648,0.00005056337,0.00011884],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000467014,0.00008866667,0.9775769,0.00001421698,0.00003531167,0.008862381,0.0001885139,0.00009252148,0.008192861,0.00004272802,0.0002209705,0.004217869],"study_design_scores_gemma":[0.00005938766,0.0004210685,0.9495609,0.000009505287,0.00003181431,0.04747659,0.0002648353,0.000318489,0.001256591,0.00008320263,0.0005057757,0.00001183308],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995854,0.00003851011,0.00005381657,0.00001498801,0.000001760352,0.000006405547,0.00006286163,0.000002263127,0.0002339273],"genre_scores_gemma":[0.9995887,0.00002987784,0.00007634391,0.00001838706,0.000008360125,0.00001042542,0.0001635052,0.00000210135,0.000102417],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001929783,"threshold_uncertainty_score":0.006455779,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005107861732107453,"score_gpt":0.2493900583505939,"score_spread":0.2442821966184865,"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."}}