{"id":"W2033850324","doi":"10.1016/j.bpj.2014.11.2684","title":"Autosomal Recessive Inheritance of Congenital Myasthenic Syndrome is Associated with Skeletal Muscle Sodium Channel Mutations","year":2015,"lang":"en","type":"article","venue":"Biophysical Journal","topic":"Myasthenia Gravis and Thymoma","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Institut Universitaire en Santé Mentale de Québec","funders":"","keywords":"Congenital myasthenic syndrome; Myotonia; Missense mutation; Sodium channel; Periodic paralysis; Mutation; Genetics; Biology; Neuromuscular transmission; Skeletal muscle; Phenotype; Neuromuscular junction; Myotonia congenita; Muscle weakness; Muscle disorder; Gene; Internal medicine; Paralysis; Endocrinology; Medicine; Chemistry; Anatomy; Neuroscience; Myotonic dystrophy; Sodium","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":[0.000278909,0.0019307,0.000721569,0.001308613,0.0005755671,0.0004598206,0.0006248212,0.001486471,0.003904521],"category_scores_gemma":[0.001646687,0.0004088799,0.0005073618,0.0008333323,0.00101958,0.0003179974,0.0007084976,0.0008044093,0.0005961734],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004704688,"about_ca_system_score_gemma":0.0006001293,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002395372,"about_ca_topic_score_gemma":0.002199642,"domain_scores_codex":[0.9994905,0.00008664357,0.00007497403,0.0001234824,0.0001427695,0.00008171071],"domain_scores_gemma":[0.9986828,0.0005631942,0.0003486975,0.00005427227,0.00008032557,0.0002706434],"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":[0.0008101907,0.00007109483,0.0350427,0.0001500901,0.000131812,0.7470719,0.0005747555,0.0004673896,0.2078477,0.001481784,0.0009831144,0.00536752],"study_design_scores_gemma":[0.0002549556,0.000298377,0.1408343,0.00005839763,0.0002488506,0.8267564,0.0002873225,0.002579721,0.02628898,0.0007138441,0.001607151,0.00007174329],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9951177,0.0004754562,0.001216619,0.000337229,0.00006379669,0.00001694436,0.0003018753,0.0001291304,0.00234128],"genre_scores_gemma":[0.9983312,0.0001247603,0.0007485466,0.00004313839,0.00004931786,0.000006334891,0.00008860333,0.00003276033,0.000575421],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003904521,"threshold_uncertainty_score":0.01306194,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02209618617186301,"score_gpt":0.2588123148266262,"score_spread":0.2367161286547632,"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."}}