{"id":"W2225779941","doi":"10.1212/wnl.0000000000002264","title":"A recessive Na <sub>v</sub> 1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis","year":2015,"lang":"en","type":"article","venue":"Neurology","topic":"Myasthenia Gravis and Thymoma","field":"Medicine","cited_by":61,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institut Universitaire en Santé Mentale de Québec","funders":"Medical Research Council","keywords":"Congenital myasthenic syndrome; Periodic paralysis; Paralysis; Medicine; Mutation; Pediatrics; Genetics; Biology; Surgery; Gene","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":[0.0001385309,0.0008565093,0.0003378034,0.0004107996,0.0003084436,0.0001770101,0.000325895,0.0004926614,0.001868312],"category_scores_gemma":[0.0006466173,0.0001636537,0.0001997653,0.0002289701,0.0004772898,0.0002048719,0.0002842511,0.0002891581,0.0002896073],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002759102,"about_ca_system_score_gemma":0.0002778216,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001121052,"about_ca_topic_score_gemma":0.001221977,"domain_scores_codex":[0.999863,0.00001546366,0.00001988157,0.00005449552,0.00002569335,0.000021289],"domain_scores_gemma":[0.9997228,0.00007936745,0.000113302,0.00001008299,0.00002010217,0.00005429419],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0007141783,0.0001558213,0.1575179,0.0001528685,0.0001001909,0.2674519,0.0006223189,0.0007543126,0.5601229,0.0004503047,0.000332085,0.01162529],"study_design_scores_gemma":[0.0001503475,0.001258728,0.2837994,0.00004748979,0.0002168454,0.6399282,0.0003111198,0.002510083,0.06945771,0.0003394834,0.001938567,0.00004208935],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987478,0.0002746199,0.0004862598,0.00005699502,0.000005020861,0.000007236477,0.00005956706,0.00001880088,0.0003437189],"genre_scores_gemma":[0.9991227,0.00007948276,0.0004360938,0.00001936826,0.00001063302,0.000005091878,0.00005764,0.00000618488,0.0002628888],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001868312,"threshold_uncertainty_score":0.006250083,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01734870233883099,"score_gpt":0.2410438951892949,"score_spread":0.2236951928504639,"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."}}