{"id":"W4396767876","doi":"10.1016/j.pediatrneurol.2024.04.027","title":"Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases","year":2024,"lang":"en","type":"article","venue":"Pediatric Neurology","topic":"Myasthenia Gravis and Thymoma","field":"Medicine","cited_by":7,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"National Institute of Neurological Disorders and Stroke; Instituto de Salud Carlos III; Canadian Institutes of Health Research; Canada First Research Excellence Fund; Canada Research Chairs; Government of Canada; European Commission; Alexander von Humboldt-Stiftung","keywords":"Congenital myasthenic syndrome; Phenotype; Myasthenia gravis; Gene; Neuromuscular junction; Medicine; Biology; Genetics; Neuroscience; Mutation; Immunology","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007387664,0.0001891727,0.0005468033,0.000354134,0.00007281783,0.00001665566,0.0001082007,0.0001868439,0.00006001861],"category_scores_gemma":[0.001227176,0.0001413575,0.0001156298,0.0008655645,0.0001212225,0.00009318363,0.00008507985,0.0003804387,0.00001000751],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004196431,"about_ca_system_score_gemma":0.0003567613,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000704308,"about_ca_topic_score_gemma":0.00001759872,"domain_scores_codex":[0.9978651,0.000468865,0.0007622758,0.000390634,0.0002284804,0.0002845898],"domain_scores_gemma":[0.9979409,0.001301728,0.0002425646,0.000250046,0.00008584876,0.0001788854],"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":[0.04296835,0.002055559,0.1360582,0.004195139,0.002506425,0.008621958,0.01127101,0.00009077568,0.772727,0.01147147,0.001077031,0.006957174],"study_design_scores_gemma":[0.0118361,0.02696477,0.9310161,0.0007925602,0.003611359,0.004731767,0.000595215,0.008171188,0.006650564,0.003119218,0.001487666,0.001023455],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9949177,0.0009498358,0.0001406255,0.00266843,0.0003572641,0.0008394715,0.0000333377,0.00006393444,0.00002940373],"genre_scores_gemma":[0.9989029,0.0002710731,0.00003788596,0.0002198802,0.0001272193,0.00001178692,0.00002562316,0.00003922851,0.0003644267],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.794958,"threshold_uncertainty_score":0.576439,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0190176600056975,"score_gpt":0.2688323189164099,"score_spread":0.2498146589107124,"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."}}