{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006068268,0.0008172052,0.0004068078,0.001235684,0.0006861698,0.001168989,0.001024064,0.001601709,0.00103831],"category_scores_gemma":[0.002761177,0.0003565834,0.0004465826,0.0006242061,0.001638721,0.001077253,0.0008964698,0.001002138,0.0003584602],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008218423,"about_ca_system_score_gemma":0.0005290709,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001285567,"about_ca_topic_score_gemma":0.001704919,"domain_scores_codex":[0.9994604,0.00008435648,0.0000936712,0.0001279766,0.00009228539,0.0001413011],"domain_scores_gemma":[0.9984195,0.0007760433,0.0002311892,0.0001586654,0.0001573581,0.000257311],"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":[0.0003307033,0.0002535907,0.209588,0.0003430063,0.0000719128,0.6817672,0.002183471,0.001043059,0.036753,0.003956196,0.002285651,0.0614243],"study_design_scores_gemma":[0.00002968286,0.0001933985,0.0590557,0.00004996481,0.00007458564,0.9254192,0.0006546592,0.001204259,0.007511946,0.001341348,0.004429038,0.00003626963],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9856476,0.004351699,0.003004479,0.001656325,0.0001125808,0.0000524857,0.0001167424,0.00006996028,0.004988127],"genre_scores_gemma":[0.9942535,0.001896858,0.0028408,0.0003081894,0.0002551154,0.00002145083,0.0001045006,0.00001210437,0.0003075998],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001601709,"threshold_uncertainty_score":0.005962908,"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."}}