{"id":"W1605667744","doi":"10.1113/jphysiol.2003.053082","title":"Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans","year":2003,"lang":"en","type":"article","venue":"The Journal of Physiology","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":50,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Institut national de la recherche scientifique","keywords":"Sodium channel; Gating; Skeletal muscle; Missense mutation; Mutation; Mutant; Chemistry; Biophysics; Cold sensitivity; Protein subunit; Mexiletine; Patch clamp; Molecular biology; Biochemistry; Biology; Internal medicine; Endocrinology; Sodium; Gene; Medicine; Receptor","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003992768,0.00006267649,0.0001230317,0.00003897639,0.00004494935,0.000002317515,0.00003026585,0.00007068681,0.00001028991],"category_scores_gemma":[0.00008310456,0.00004161185,0.0000497499,0.00007591272,0.0001006336,0.000008650111,0.00001858449,0.0000762765,2.132491e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008835092,"about_ca_system_score_gemma":0.0000740407,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001840165,"about_ca_topic_score_gemma":0.00002678894,"domain_scores_codex":[0.9992494,0.0003005019,0.0002329201,0.00006614305,0.00007869786,0.00007233651],"domain_scores_gemma":[0.9993815,0.00003404569,0.0003418987,0.00008462003,0.0001390369,0.00001888397],"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":[0.0001006617,0.00003305233,0.0002152842,0.000009149368,0.00002043515,2.465119e-7,0.0001763793,0.001349503,0.9977368,0.0001338675,0.00004701783,0.000177623],"study_design_scores_gemma":[0.0009197455,0.000244502,0.4183415,0.00002053192,0.00003535545,0.00005965707,0.0002046559,0.001048279,0.5781764,0.0003166504,0.000564808,0.00006784093],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.994083,0.00006222162,0.005265487,0.0001598248,0.0003228704,0.00008755566,0.000004214642,7.009225e-7,0.00001410694],"genre_scores_gemma":[0.9996023,0.00003994812,0.00001756349,0.00008343077,0.0001527519,6.162915e-7,0.00001161819,0.000004959932,0.0000868261],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4195603,"threshold_uncertainty_score":0.1696882,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01418877156794052,"score_gpt":0.2255054476194738,"score_spread":0.2113166760515333,"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."}}