{"id":"W2972432928","doi":"10.1016/j.nmd.2019.09.001","title":"De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure","year":2019,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":false,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Myotonia; Medicine; Respiratory failure; Respiratory system; Skeletal muscle; Muscle stiffness; Cardiology; Sodium channel; Anesthesia; Internal medicine; Myotonic dystrophy; Sodium; Chemistry","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":[0.0003782957,0.002078396,0.0006648927,0.001036552,0.0007951467,0.0004783789,0.001130082,0.003020013,0.003018312],"category_scores_gemma":[0.001941585,0.0003585976,0.001050489,0.0006131901,0.001437661,0.0004660415,0.0007983997,0.001165429,0.0007490937],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007393277,"about_ca_system_score_gemma":0.0005692673,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002233692,"about_ca_topic_score_gemma":0.002153446,"domain_scores_codex":[0.9993657,0.00009105143,0.0001146191,0.0001628479,0.0001695802,0.00009628254],"domain_scores_gemma":[0.9986017,0.0004819586,0.0003636948,0.0000805365,0.0001097289,0.0003623895],"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":[0.0003285116,0.00007296682,0.01424209,0.00007657279,0.00008812381,0.9406946,0.0002121259,0.0002561524,0.04063616,0.0006729957,0.0005534333,0.002166313],"study_design_scores_gemma":[0.00009275953,0.0003887023,0.07255208,0.00007119565,0.0001821493,0.9051017,0.0003053279,0.001585356,0.01547738,0.0008919177,0.003285404,0.00006599483],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9883937,0.001169954,0.002801803,0.001716802,0.000890566,0.00007276949,0.0007104756,0.0001966649,0.004047305],"genre_scores_gemma":[0.9964228,0.0002488007,0.0009288978,0.0003789589,0.0002358207,0.00001642366,0.0002112724,0.00005100993,0.001505928],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003020013,"threshold_uncertainty_score":0.01009727,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005379912471446153,"score_gpt":0.2027169501051815,"score_spread":0.1973370376337353,"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."}}