{"id":"W4282598224","doi":"10.1093/brain/awac210","title":"The gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications","year":2022,"lang":"en","type":"article","venue":"Brain","topic":"Epilepsy research and treatment","field":"Medicine","cited_by":156,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; University of Toronto","funders":"NIHR Great Ormond Street Hospital Biomedical Research Centre; Medical Research Council; Greenwich Biosciences; National Institutes of Health; Eisai; National Institute of Neurological Disorders and Stroke; Bundesministerium für Bildung und Forschung; Dravet Syndrome UK; National Institute for Health and Care Research; Dietmar Hopp Stiftung; Amicus Therapeutics; Zynerba Pharmaceuticals; Agence Nationale de la Recherche; GlaxoSmithKline; Zogenix; Ultragenyx Pharmaceutical; Rosetrees Trust; GW Pharmaceuticals; Dravet Syndrome Foundation","keywords":"Dravet syndrome; Epilepsy; Familial hemiplegic migraine; Pediatrics; Encephalopathy; Medicine; Arthrogryposis; Intellectual disability; Migraine; Psychology; Anesthesia; Internal medicine; Psychiatry; Migraine with aura; Surgery","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002567176,0.00006689874,0.0001018354,0.00003936096,0.000319037,0.00000941889,0.00005932771,0.00001446927,0.0001338947],"category_scores_gemma":[0.00005209116,0.00004433449,0.00003914711,0.0002149877,0.00007188255,0.00001436886,0.00005804029,0.000124548,0.000006065809],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003687717,"about_ca_system_score_gemma":0.0000726721,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009253525,"about_ca_topic_score_gemma":0.0001287465,"domain_scores_codex":[0.9993378,0.0000538516,0.0001222454,0.0001433707,0.0001760907,0.0001666417],"domain_scores_gemma":[0.9993409,0.00027941,0.00004165947,0.0002515336,0.00002807211,0.00005843387],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001942382,0.002441214,0.4583186,0.000102016,0.0009119778,0.000006563367,0.001084019,0.0001061478,0.0685086,0.1596584,0.01215645,0.2947637],"study_design_scores_gemma":[0.002742765,0.001557577,0.8691429,0.000009383213,0.00009668421,0.00005287391,0.000762897,0.0003953307,0.0005822151,0.01161162,0.1129422,0.0001035638],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8725594,0.00684168,0.002336874,0.1083855,0.0001170828,0.001294296,0.0001072905,0.00006670532,0.008291172],"genre_scores_gemma":[0.9975622,0.0001091858,0.0000660894,0.0006354808,0.00003705178,0.0001573223,0.00003072289,0.0000120462,0.001389846],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4108242,"threshold_uncertainty_score":0.2453807,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0201364970290453,"score_gpt":0.2850093706340457,"score_spread":0.2648728736050004,"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."}}