{"id":"W4387998456","doi":"10.1016/j.ebiom.2023.104855","title":"Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia","year":2023,"lang":"en","type":"article","venue":"EBioMedicine","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital","funders":"Janivo Stichting; Ministero della Salute; Bundesministerium für Bildung und Forschung; Vlaamse regering; European Commission; Eberhard Karls Universität Tübingen; Eisai; Deutscher Akademischer Austauschdienst; Deutsche Forschungsgemeinschaft; Dravet Syndrome Foundation","keywords":"Ataxia; Medicine; Genetics; Biology; Bioinformatics; 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":[0.0002228821,0.0007698554,0.0003366136,0.0006413455,0.0003485265,0.0002760381,0.0002408669,0.0005679054,0.002388781],"category_scores_gemma":[0.0008911059,0.0001627679,0.0002115212,0.0004097922,0.0005070988,0.0001638147,0.0003510411,0.0002841663,0.0002765325],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000173694,"about_ca_system_score_gemma":0.0001656766,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001154875,"about_ca_topic_score_gemma":0.001527819,"domain_scores_codex":[0.9997287,0.00003136089,0.00005508587,0.00009849512,0.00004085183,0.00004543603],"domain_scores_gemma":[0.9991048,0.0002552062,0.000337553,0.00003942559,0.00006944409,0.0001935982],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001008014,0.0001779932,0.8329006,0.00007853906,0.0001179542,0.05968722,0.0005797194,0.0002239705,0.09945413,0.0001346337,0.0002739524,0.005363231],"study_design_scores_gemma":[0.00005361321,0.0006191211,0.8478746,0.00002327012,0.00009678405,0.1465075,0.0002233468,0.0002812399,0.003624867,0.0001230677,0.0005550597,0.00001744802],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991725,0.0001394777,0.0001980566,0.00001480758,0.000003906109,0.00000811217,0.0001193937,0.000005211969,0.0003385179],"genre_scores_gemma":[0.9992669,0.00008059107,0.0002450697,0.00002546526,0.00001235496,0.000006513732,0.0002230502,0.000004947547,0.000134912],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002388781,"threshold_uncertainty_score":0.007991254,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06326596905122847,"score_gpt":0.3596959205705491,"score_spread":0.2964299515193206,"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."}}