{"id":"W2169714889","doi":"10.1002/ana.24389","title":"Defective fast inactivation recovery of <scp>N</scp>a<sub>v</sub>1.4 in congenital myasthenic syndrome","year":2015,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"Myasthenia Gravis and Thymoma","field":"Medicine","cited_by":67,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Child Health and Human Development; National Institutes of Health","keywords":"Sodium channel; Depolarization; Congenital myasthenic syndrome; Mutant; Hyperpolarization (physics); Mutation; Membrane potential; Biology; Internal medicine; Biophysics; Chemistry; Endocrinology; Gene; Genetics; Medicine; 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":[0.00009798114,0.0007289377,0.000322982,0.0004278217,0.0001797244,0.000198504,0.000307648,0.0006046183,0.001178413],"category_scores_gemma":[0.0004825999,0.0001647756,0.0002779112,0.0001467332,0.0005735896,0.0002064612,0.0003060755,0.000380856,0.0003053285],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001924065,"about_ca_system_score_gemma":0.0001581059,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007306085,"about_ca_topic_score_gemma":0.0007035707,"domain_scores_codex":[0.9998882,0.00001203523,0.00001393108,0.00003652884,0.00003079045,0.00001856074],"domain_scores_gemma":[0.9997702,0.00006055186,0.00008821316,0.00001233826,0.00001419634,0.00005449888],"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":[0.0005614017,0.00008433728,0.04642863,0.0001388441,0.00007837489,0.2926761,0.0003488646,0.0006725105,0.6500347,0.0003303027,0.0003333195,0.00831263],"study_design_scores_gemma":[0.00008887521,0.0009210259,0.2192076,0.00002261972,0.0001056564,0.6716048,0.0001546105,0.003592891,0.1025725,0.0002424089,0.001443108,0.00004396174],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986311,0.0001673084,0.0007134351,0.00004489299,0.000009563922,0.000005685191,0.00006331728,0.00004036558,0.0003243742],"genre_scores_gemma":[0.9991283,0.00007441144,0.0004067869,0.00002674987,0.00001267366,0.000004384352,0.00006680963,0.00001475606,0.0002652972],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001178413,"threshold_uncertainty_score":0.003942192,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04464626649776919,"score_gpt":0.283304480880803,"score_spread":0.2386582143830338,"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."}}