{"id":"W2560789061","doi":"10.1016/j.jpeds.2016.10.079","title":"Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases","year":2016,"lang":"en","type":"article","venue":"The Journal of Pediatrics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":31,"is_retracted":false,"has_abstract":false,"ca_institutions":"Toronto Western Hospital; University of Toronto","funders":"Fritz Thyssen Stiftung; Universität zu Lübeck; Deutsche Forschungsgemeinschaft; Hermann und Lilly Schilling-Stiftung für Medizinische Forschung","keywords":"Medicine; Mutation; Cyclase; Pediatrics; Genetics; Gene; Internal medicine; Biology","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003065483,0.00008433601,0.0001666182,0.00006729763,0.00002601133,0.000004345624,0.0001776941,0.00003713725,0.00001010884],"category_scores_gemma":[0.001938014,0.00005233552,0.0001470329,0.0001019353,0.00004351186,0.000008900047,0.00005296463,0.00004357593,3.550729e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001193453,"about_ca_system_score_gemma":0.0005837521,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001010902,"about_ca_topic_score_gemma":0.0000103274,"domain_scores_codex":[0.9989051,0.00006924165,0.0005894935,0.00007871441,0.0002604883,0.00009701836],"domain_scores_gemma":[0.9976048,0.0001193702,0.001572674,0.0001747116,0.0004050383,0.0001234004],"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":[0.001591824,0.001103594,0.1840234,0.0002915701,0.0004753201,0.000729367,0.00108005,0.003983411,0.7966556,0.0001017098,0.006286614,0.003677601],"study_design_scores_gemma":[0.01330298,0.002796444,0.3564862,0.0004795863,0.004060306,0.003381902,0.001148139,0.00008137154,0.6108354,0.006277945,0.0003793202,0.0007703649],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971218,0.001961422,0.0004307333,0.0001740639,0.0001079385,0.00008523905,0.00008394624,0.000001284238,0.0000336138],"genre_scores_gemma":[0.9983186,0.001048429,0.0001706359,0.00001689211,0.0002844596,5.00232e-7,0.00001969138,0.00001160151,0.0001291616],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1858202,"threshold_uncertainty_score":0.2320124,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008282196029785242,"score_gpt":0.2741443738013142,"score_spread":0.265862177771529,"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."}}