{"id":"W4389451173","doi":"10.1212/wnl.80.7_supplement.in1-1.010","title":"An Atypical Case of an <i>SCN9A</i> Mutation with Global Motor Delay and Erythromelalgia (IN1-1.010)","year":2013,"lang":"en","type":"article","venue":"Neurology","topic":"Neurological disorders and treatments","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Erythromelalgia; Muscle biopsy; Mexiletine; Compound heterozygosity; Skin biopsy; Medicine; Missense mutation; Anesthesia; Psychology; Internal medicine; Biopsy; Mutation; Genetics; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002827354,0.001875391,0.000889334,0.001201987,0.001158258,0.000854951,0.001060256,0.003580923,0.00198467],"category_scores_gemma":[0.002686979,0.0005844253,0.0006878161,0.0008320906,0.001273615,0.001244456,0.001120946,0.001678664,0.0007037303],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007814908,"about_ca_system_score_gemma":0.0005437267,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001644232,"about_ca_topic_score_gemma":0.00198155,"domain_scores_codex":[0.9996052,0.00004696309,0.00005657445,0.0001216233,0.00004860733,0.0001209546],"domain_scores_gemma":[0.9986539,0.0004350714,0.000311189,0.00005804699,0.00007991363,0.0004618996],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00003439236,0.00001419489,0.00278994,0.00001429676,0.000003888888,0.9951716,0.0000432572,0.0000624349,0.00115563,0.0001123601,0.000211229,0.0003867188],"study_design_scores_gemma":[0.00001299569,0.00005368573,0.003212363,0.000007950009,0.00000713973,0.9957963,0.00004320196,0.0001816388,0.0002671166,0.0001801951,0.0002306988,0.000006798719],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9769192,0.001702731,0.002514493,0.003276107,0.000353279,0.000106882,0.0003065009,0.0001827382,0.01463803],"genre_scores_gemma":[0.9953258,0.0003979423,0.001555918,0.00112808,0.0004395387,0.00001941538,0.00009093857,0.00003111538,0.00101129],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003580923,"threshold_uncertainty_score":0.006639361,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008536233413920846,"score_gpt":0.2587673669720227,"score_spread":0.2502311335581019,"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."}}