{"id":"W4415695677","doi":"10.1080/19336950.2025.2580175","title":"<i>SCN3A</i> -related neurodevelopmental disorder: Clinical case reports and biophysical characterization","year":2025,"lang":"en","type":"article","venue":"Channels","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University; B.C. Women's Hospital & Health Centre; BC Children's Hospital; Simon Fraser University; University of Manitoba; University of British Columbia","funders":"Natural Sciences and Engineering Research Council of Canada","keywords":"Mutation; Epilepsy; Sodium channel; Phenotype; Mutant; Neurodevelopmental disorder; Gene","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":[0.0002566969,0.001461487,0.0005593653,0.0008386525,0.0006612366,0.0006150274,0.0006878197,0.002011173,0.0009222082],"category_scores_gemma":[0.0009513348,0.0003408146,0.0004983014,0.0004602706,0.001242419,0.0006232841,0.0009668252,0.001275556,0.0003373176],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007409348,"about_ca_system_score_gemma":0.0004823101,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001975329,"about_ca_topic_score_gemma":0.001811493,"domain_scores_codex":[0.999694,0.00002556395,0.00004334906,0.0001234717,0.00005255827,0.00006102328],"domain_scores_gemma":[0.9996062,0.00009030041,0.000111425,0.0000344419,0.00003072059,0.0001269097],"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":[0.00002699807,0.00004117577,0.00709554,0.00003688678,0.00001347928,0.9830878,0.0001728772,0.0001702851,0.005871794,0.0005493408,0.0005624485,0.002371294],"study_design_scores_gemma":[0.000006189787,0.0000300776,0.005529749,0.00001271924,0.00001099717,0.9913999,0.0000457059,0.0002054022,0.001743664,0.0002118993,0.0007926309,0.0000112064],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.983373,0.003241876,0.004840891,0.001501581,0.0001858441,0.0001528837,0.0004818265,0.0001904076,0.006031779],"genre_scores_gemma":[0.9941374,0.0013454,0.002494759,0.0005965796,0.00018816,0.00005186835,0.000226749,0.00003680262,0.0009222359],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002011173,"threshold_uncertainty_score":0.005375862,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01045634174797399,"score_gpt":0.2679830056983074,"score_spread":0.2575266639503334,"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."}}