{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008695931,0.0003242176,0.0001925707,0.0001659953,0.00009417749,0.0001324005,0.00009391519,0.0002003546,0.0007346401],"category_scores_gemma":[0.0001778954,0.00004395732,0.0001161695,0.0001104571,0.0002367373,0.000114793,0.0001748942,0.0001735574,0.0001488159],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001096223,"about_ca_system_score_gemma":0.00009727687,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004706557,"about_ca_topic_score_gemma":0.0006682901,"domain_scores_codex":[0.9999601,0.000008049318,0.000006070117,0.000009355583,0.000005422394,0.00001105207],"domain_scores_gemma":[0.999933,0.00001261234,0.00002579931,0.000003547505,0.000004352869,0.00002067798],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001917135,0.0003283661,0.3577947,0.0002281649,0.0001476899,0.09556989,0.0005502992,0.001013827,0.3318254,0.002038344,0.003409919,0.2051762],"study_design_scores_gemma":[0.0002129427,0.001508191,0.6998452,0.0001137264,0.0001670526,0.2682598,0.0005833603,0.001764739,0.0189354,0.00170811,0.006868412,0.00003306042],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9951137,0.001758794,0.001084765,0.0002876835,0.00001032284,0.0000125849,0.00007623094,0.00003520185,0.001620827],"genre_scores_gemma":[0.9983804,0.0006302025,0.000570229,0.00014679,0.00002356129,0.000005038596,0.00007648235,0.000006163993,0.0001610701],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0007346401,"threshold_uncertainty_score":0.002457559,"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."}}